ClinVar Miner

Variants with conflicting interpretations studied for Spastic paraplegia

Coded as:
Minimum review status of the submission for Spastic paraplegia: Collection method of the submission for Spastic paraplegia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
9276 802 0 386 429 1 45 812

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Spastic paraplegia pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 57 13 0 0 0 0
likely pathogenic 32 0 13 1 1 1 1
uncertain significance 6 15 0 32 5 1 1
likely benign 1 1 285 0 40 0 0
benign 0 2 110 263 0 0 0

Condition to condition summary #

Total conditions: 84
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 0 592 0 270 338 1 35 621
not specified 0 298 0 119 90 0 8 211
L1CAM-related condition 0 6 0 21 2 0 0 23
SACS-related condition 0 41 0 10 8 0 0 18
KIF5A-related condition 0 22 0 7 3 0 0 10
Spastic paraplegia 10875 6 0 6 0 0 3 9
KDM5C-related condition 0 6 0 7 0 0 0 7
Spastic Paraplegia, Recessive 0 3 0 1 5 0 0 6
ZFYVE26-related condition 0 22 0 4 1 0 0 5
CYP2U1-related condition 0 1 0 4 0 0 0 4
Spastic paraplegia, autosomal dominant 0 0 0 4 0 0 0 4
AP4E1-related condition 0 13 0 2 1 0 0 3
Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 0 1 0 2 1 0 0 3
See cases 0 1 0 1 3 0 1 3
AP4M1-related condition 0 0 0 2 0 0 0 2
ARSI-related condition 0 4 0 2 0 0 0 2
Abnormal brain morphology 0 2 0 1 0 0 1 2
Abnormal central motor function 0 0 0 2 0 0 0 2
CYP7B1-related condition 0 22 0 1 1 0 0 2
ERLIN2-related condition 0 1 0 2 0 0 0 2
GJC2-related disorder 0 4 0 1 1 0 0 2
HSPD1-related condition 0 2 0 2 0 0 0 2
History of neurodevelopmental disorder 0 0 0 0 2 0 0 2
Hydrocephalus due to aqueductal stenosis 0 2 0 0 2 0 0 2
Tip-toe gait 0 0 0 0 0 0 2 2
16p13.11 recurrent microdeletion syndrome 0 0 0 0 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 1 0 0 1 1
1p13.3 deletion syndrome 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 1 1
22q13.3 interstitial deletion 0 0 0 1 0 0 1 1
AP4B1-related condition 0 0 0 1 0 0 0 1
ATAD3 gene cluster related condition 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 0 0 0 1 1
Abnormality of the nervous system 0 0 0 1 0 0 0 1
Aganglionic megacolon 0 0 0 1 0 0 0 1
Aminoaciduria 0 0 0 1 0 0 1 1
Anophthalmia-microphthalmia syndrome 0 0 0 0 0 0 1 1
Arthrogryphosis 0 0 0 0 0 0 1 1
Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Secondary microcephaly 0 0 0 0 0 0 1 1
Atypical behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Absent speech 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 0 0 0 1 1
B4GALNT1-related condition 0 6 0 1 0 0 0 1
Decreased activity of the pyruvate dehydrogenase complex 0 0 0 1 0 0 0 1
Deep venous thrombosis 0 0 0 0 0 0 1 1
Delayed speech and language development 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 1 0 0 1 1
Focal-onset seizure 0 0 0 0 0 0 1 1
GBA2-related condition 0 5 0 0 1 0 0 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 1 1 0 1 1
Global developmental delay; Expressive language delay; Secondary microcephaly 0 0 0 1 0 0 1 1
Global developmental delay; Neurodegeneration 0 0 0 1 0 0 0 1
Global developmental delay; Seizure; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Growth abnormality 0 0 0 0 0 0 1 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 0 0 0 1 0 0 1 1
Inherited Immunodeficiency Diseases 0 0 0 0 0 0 1 1
Intellectual disability, mild 0 0 0 1 0 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 1 1
Internal malformations 0 0 0 0 0 0 1 1
Interstitial 6q microdeletion syndrome 0 0 0 1 0 0 1 1
KIF5A-related intractable neonatal myoclonus 0 0 0 0 1 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 1 1
MKS1-related condition 0 0 0 0 1 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 0 0 0 1 1
PPFIA3-related disorder 0 0 0 0 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 1 1
RHD DEL 0 0 0 1 0 0 1 1
RTN2-related condition 0 4 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 0 1 0 0 0 1
Renal transitional cell carcinoma 0 0 0 0 0 0 1 1
SLC16A2-related condition 0 1 0 1 0 0 0 1
SLC4A10-related neurodevelopmental disorder 0 0 0 0 0 0 1 1
Seizure 0 0 0 0 0 0 1 1
Silver Russell Syndrome-related disorder 0 0 0 0 0 0 1 1
Smith-Magenis Syndrome-like 0 0 0 0 0 0 1 1
Spastic tetraparesis 0 0 0 0 1 0 0 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Splenomegaly; Decreased circulating antibody level 0 0 0 1 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
ZNF331 deletion 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 812
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93729
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06991
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04741
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NC_000008.11:g.64798895G>C rs117576566 0.02967
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02833
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_015346.4(ZFYVE26):c.2332+7del rs145183291 0.02598
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_015346.4(ZFYVE26):c.6987-3C>T rs76728509 0.01610
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg) rs140540720 0.00750
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935 0.00720
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_001478.5(B4GALNT1):c.812-7A>T rs78105569 0.00555
NM_005619.5(RTN2):c.444C>G (p.Gly148=) rs139232850 0.00550
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_015346.4(ZFYVE26):c.6588+7C>T rs186040735 0.00471
NM_004733.4(SLC33A1):c.1482+7A>G rs149522913 0.00458
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_005619.5(RTN2):c.351A>G (p.Gln117=) rs144028452 0.00450
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=) rs142722211 0.00412
NM_015346.4(ZFYVE26):c.5484+13G>A rs140117984 0.00407
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_001012301.4(ARSI):c.87C>T (p.Ala29=) rs200012526 0.00369
NM_015346.4(ZFYVE26):c.5653+16G>A rs140437859 0.00367
NM_015346.4(ZFYVE26):c.2401+13C>G rs77104978 0.00360
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=) rs144007962 0.00349
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627 0.00332
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=) rs144400738 0.00329
NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=) rs145611777 0.00327
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_007347.5(AP4E1):c.852A>G (p.Leu284=) rs114575519 0.00287
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_015346.4(ZFYVE26):c.2401+11T>A rs191741115 0.00274
NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=) rs74935043 0.00272
NM_015346.4(ZFYVE26):c.7371+18C>T rs149769693 0.00272
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910 0.00250
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015346.4(ZFYVE26):c.7417-5G>C rs201771769 0.00236
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546 0.00220
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile) rs142676629 0.00214
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00192
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_001012301.4(ARSI):c.1242C>T (p.Ala414=) rs148519839 0.00155
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro) rs200545714 0.00152
NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=) rs138543433 0.00148
NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=) rs151177784 0.00147
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_014846.4(WASHC5):c.*3del rs569426560 0.00146
NM_001478.5(B4GALNT1):c.1385-10C>T rs200524912 0.00143
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_007175.8(ERLIN2):c.557+8T>C rs181608326 0.00141
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu) rs148477072 0.00141
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr) rs147301375 0.00138
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_020944.3(GBA2):c.815T>C (p.Val272Ala) rs142602400 0.00133
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_020944.3(GBA2):c.1146G>A (p.Thr382=) rs144060698 0.00126
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=) rs147494935 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met) rs144790966 0.00107
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=) rs200243306 0.00105
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) rs112575270 0.00103
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser) rs148983337 0.00086
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp) rs142883889 0.00081
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_004187.5(KDM5C):c.408G>C (p.Arg136=) rs149293316 0.00074
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_020435.4(GJC2):c.147C>T (p.Asp49=) rs139992251 0.00071
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00068
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys) rs201277546 0.00061
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr) rs138965635 0.00056
NM_007175.8(ERLIN2):c.558-20C>T rs76777169 0.00055
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) rs139178593 0.00052
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414 0.00052
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_001128126.3(AP4S1):c.306+4283C>T rs143795469 0.00050
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789 0.00049
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=) rs146793500 0.00044
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_001128126.3(AP4S1):c.306+4191A>G rs200969079 0.00038
NM_001478.5(B4GALNT1):c.1144-7C>T rs370107238 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=) rs200885656 0.00035
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00035
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile) rs142215198 0.00034
NM_001012301.4(ARSI):c.737G>A (p.Arg246His) rs143734494 0.00033
NM_001012301.4(ARSI):c.1135G>A (p.Glu379Lys) rs200384227 0.00032
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_005619.5(RTN2):c.1241+12C>T rs185630222 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_005619.5(RTN2):c.1450+17G>A rs200479692 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_020944.3(GBA2):c.1395G>A (p.Pro465=) rs149501146 0.00027
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val) rs542940704 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) rs200876187 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_024306.5(FA2H):c.271-8C>A rs199610820 0.00021
NM_001012301.4(ARSI):c.680G>A (p.Arg227His) rs144405126 0.00020
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys) rs200789237 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) rs114935472 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=) rs200941258 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_001278116.2(L1CAM):c.1547-18C>T rs200876938 0.00018
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_004187.5(KDM5C):c.4117+9A>G rs367909568 0.00014
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00014
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met) rs200179480 0.00014
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly) rs750198250 0.00014
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=) rs138472735 0.00014
NM_006517.5(SLC16A2):c.634G>A (p.Ala212Thr) rs376266144 0.00013
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) rs140577908 0.00013
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=) rs199794711 0.00013
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_007347.5(AP4E1):c.1815C>T (p.Ser605=) rs759539551 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr) rs142944337 0.00012
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=) rs149733911 0.00011
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594 0.00011
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_015346.4(ZFYVE26):c.5321-3C>T rs376234357 0.00011
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_004820.5(CYP7B1):c.850+5G>C rs202155727 0.00010
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg) rs140303247 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001278116.2(L1CAM):c.1547-14C>T rs145192924 0.00009
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=) rs201081454 0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) rs200206375 0.00009
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr) rs143913941 0.00009
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_002156.5(HSPD1):c.175-7C>T rs374694909 0.00008
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.792G>T (p.Gly264=) rs782585482 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=) rs200292614 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His) rs373740172 0.00008
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn) rs534497092 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.1703+10G>C rs781848372 0.00007
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) rs200561489 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_004984.4(KIF5A):c.820-9C>A rs185306438 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) rs200799618 0.00006
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=) rs373931846 0.00006
NM_004187.5(KDM5C):c.3439-13C>A rs45494602 0.00006
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val) rs200914930 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001278116.2(L1CAM):c.400+9C>T rs201057718 0.00005
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met) rs199796566 0.00005
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) rs111597352 0.00005
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) rs782770109 0.00005
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile) rs782529520 0.00005
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_005619.5(RTN2):c.939del (p.Thr314fs) rs768449676 0.00005
NM_006517.5(SLC16A2):c.525C>T (p.Thr175=) rs754816447 0.00005
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile) rs778985234 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter) rs754944359 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) rs782495914 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001278116.2(L1CAM):c.3542+14G>A rs782488294 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_004820.5(CYP7B1):c.850+18A>T rs374380529 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_006517.5(SLC16A2):c.676C>T (p.Arg226Cys) rs201194222 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_020435.4(GJC2):c.285G>A (p.Leu95=) rs148764840 0.00004
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=) rs387906970 0.00003
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) rs182851917 0.00003
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) rs200006286 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 0.00003
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) rs1064796541 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys) rs756384880 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) rs774349752 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His) rs201339450 0.00003
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met) rs771937001 0.00003
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=) rs147321202 0.00003
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) rs202175564 0.00002
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) rs200688598 0.00002
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) rs1172761444 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.3322+19G>A rs375076231 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala) rs782426227 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys) rs756065515 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=) rs144063215 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_020944.3(GBA2):c.2054+6C>T rs148315388 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_024306.5(FA2H):c.771C>T (p.His257=) rs371293493 0.00002
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) rs1557091552 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) rs782568205 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 0.00001
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) rs782097679 0.00001
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) rs199822230 0.00001
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) rs149420127 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) rs199910719 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001278116.2(L1CAM):c.3543-11T>C rs782225211 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) rs782615469 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser) rs748660256 0.00001
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His) rs1556836492 0.00001
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His) rs780086745 0.00001
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr) rs149254654 0.00001
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) rs771914413 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=) rs746764976 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) rs1364796862 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_015346.4(ZFYVE26):c.1170G>A (p.Leu390=) rs532292359 0.00001
NM_015346.4(ZFYVE26):c.1272-10T>C rs773153713 0.00001
NM_015346.4(ZFYVE26):c.1819G>A (p.Gly607Arg) rs142015707 0.00001
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=) rs766701632 0.00001
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) rs1021631118 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter) rs1463651673 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_024306.5(FA2H):c.782A>G (p.His261Arg) rs761645282 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_030954.4(RNF170):c.396+3A>G rs1159600703 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NM_001012301.4(ARSI):c.1007G>A (p.Arg336Gln)
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.306+4182dup rs766477779
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.2431+5G>A rs1557090943
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
NM_001278116.2(L1CAM):c.2750-6C>T
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001478.5(B4GALNT1):c.139del (p.Arg47fs) rs1555186937
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) rs863224878
NM_004187.5(KDM5C):c.1243-2A>G rs1569274606
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=) rs139444870
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp) rs782388435
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter) rs752598529
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004722.4(AP4M1):c.694dup (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs) rs2129629942
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter) rs769676029
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.730A>T (p.Lys244Ter)
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=) rs754533279
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) rs1594915468
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000
NM_005619.5(RTN2):c.1135G>A (p.Val379Met)
NM_005619.5(RTN2):c.1381-12del rs537146226
NM_005619.5(RTN2):c.1381-5C>T
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.129C>G (p.Pro43=)
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del) rs753170095
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007175.8(ERLIN2):c.299-4_299-3del rs778852699
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.346-19del rs200011804
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.9972A>T (p.Leu3324=) rs772412510
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs) rs2140250002
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr) rs531152715
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_015346.4(ZFYVE26):c.3017G>A (p.Arg1006Gln)
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del) rs761454264
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met) rs201034965
NM_015346.4(ZFYVE26):c.475G>C (p.Asp159His)
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015346.4(ZFYVE26):c.5622-10_5622-9del rs768978705
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
NM_015346.4(ZFYVE26):c.7371+6C>G rs894907950
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys) rs1057518032
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs) rs759033144
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu) rs550088634
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr) rs761095930
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
Single allele

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