ClinVar Miner

List of variants studied for autoimmune disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 566
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.44475
NM_001370466.1(NOD2):c.*1156G>A rs3135500 0.43497
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33528
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752 0.21018
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17678
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13390
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12856
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_032977.3(CASP10):c.-206C>T rs16836789 0.11957
NM_032977.4(CASP10):c.*277G>A rs3931696 0.11064
NM_032977.4(CASP10):c.*285G>A rs3851974 0.10701
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.10420
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NM_000043.6(FAS):c.*565A>T rs1051070 0.06845
NM_032977.4(CASP10):c.*1920G>C rs11885191 0.06626
NM_032977.4(CASP10):c.*2757A>G rs13414860 0.06432
NM_032977.3(CASP10):c.-360T>C rs41429849 0.06139
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_015474.4(SAMHD1):c.*629C>T rs8124728 0.05345
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04193
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.04059
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_032977.4(CASP10):c.*815C>T rs17860409 0.03348
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.02935
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02760
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02500
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02019
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01404
NM_032977.4(CASP10):c.*367G>C rs41365346 0.01382
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01378
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01249
NM_001370466.1(NOD2):c.*521C>T rs5743297 0.01121
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.00956
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00929
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00781
NM_001370466.1(NOD2):c.-8-2340del rs5743265 0.00779
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_032977.4(CASP10):c.*3513A>G rs6752492 0.00762
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00717
NM_001372051.1(CASP8):c.*71G>A rs41309822 0.00687
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00676
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00602
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_032977.4(CASP10):c.*2689A>G rs41447745 0.00548
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00537
NM_032977.4(CASP10):c.*2831C>T rs151162733 0.00535
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_032977.4(CASP10):c.*2289A>C rs41369551 0.00488
NM_015474.4(SAMHD1):c.*288A>G rs114791229 0.00467
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_032977.4(CASP10):c.*1471G>A rs192319559 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_032977.4(CASP10):c.*665G>A rs142072849 0.00456
NM_032977.4(CASP10):c.*77T>G rs191438878 0.00455
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_032977.4(CASP10):c.*3137G>C rs41522046 0.00417
NM_015474.4(SAMHD1):c.*1008C>G rs116489517 0.00406
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00384
NM_015474.4(SAMHD1):c.*45C>T rs115645414 0.00383
NM_032977.4(CASP10):c.*2618G>A rs41431151 0.00382
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_001372051.1(CASP8):c.*166G>C rs35474602 0.00369
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00340
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00334
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_032977.4(CASP10):c.*1043C>T rs553212718 0.00334
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_032977.4(CASP10):c.*1593T>C rs564618271 0.00307
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00303
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00296
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_032977.4(CASP10):c.*3071G>A rs41339144 0.00288
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00277
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00271
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_032977.4(CASP10):c.*1955G>A rs139807893 0.00249
NM_015474.4(SAMHD1):c.*240G>A rs143588093 0.00244
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) rs35976359 0.00241
NM_032977.4(CASP10):c.*1793C>A rs114760847 0.00240
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00238
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_015474.4(SAMHD1):c.*71C>A rs138927042 0.00229
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00217
NM_001370466.1(NOD2):c.*620G>A rs116213743 0.00216
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_001370466.1(NOD2):c.*990T>C rs192842874 0.00208
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_032977.4(CASP10):c.*1688A>G rs41515650 0.00191
NM_001370466.1(NOD2):c.*89C>T rs184545855 0.00183
NM_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00168
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985 0.00156
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00155
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00153
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00146
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00140
NM_015474.4(SAMHD1):c.*505T>A rs747128919 0.00139
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00133
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00131
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00121
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00121
NM_000043.6(FAS):c.*436C>T rs143388574 0.00118
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_001372051.1(CASP8):c.*755G>A rs145519245 0.00106
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00100
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00099
NM_015474.4(SAMHD1):c.*717G>C rs1990092783 0.00099
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00097
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00092
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_032977.4(CASP10):c.*1914C>T rs185318287 0.00070
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00067
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00061
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00060
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00055
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00054
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00050
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00048
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_032977.4(CASP10):c.*1624T>C rs150841386 0.00044
NM_032977.4(CASP10):c.*2590G>C rs74267227 0.00044
NM_032977.4(CASP10):c.*3613C>T rs774470649 0.00044
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00043
NM_001370466.1(NOD2):c.*877C>A rs140643942 0.00041
NM_032977.4(CASP10):c.*3420C>T rs536711035 0.00040
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00038
NM_015474.4(SAMHD1):c.*95T>C rs147220022 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00038
NM_032977.4(CASP10):c.*136A>G rs747374452 0.00036
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00033
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00032
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00032
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00032
NM_001370466.1(NOD2):c.-8-2297C>T rs188341692 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_001370466.1(NOD2):c.*382C>T rs535063121 0.00030
NM_001370466.1(NOD2):c.*462C>A rs562972090 0.00029
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) rs144353824 0.00029
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00027
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00027
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00026
NM_001372051.1(CASP8):c.*314C>T rs906158329 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00025
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_032977.4(CASP10):c.*739T>C rs559831804 0.00024
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NM_001228.4(CASP8):c.-310A>G rs527497064 0.00023
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00022
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_001372051.1(CASP8):c.*812T>A rs538987233 0.00022
NM_001370466.1(NOD2):c.*1201T>A rs751525993 0.00021
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_001370466.1(NOD2):c.*1023C>T rs5743299 0.00019
NM_001370466.1(NOD2):c.*470C>T rs770461687 0.00019
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00019
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001372051.1(CASP8):c.*124C>T rs886055432 0.00018
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00017
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00017
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_000639.3(FASLG):c.*3G>T rs200021473 0.00016
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00015
NM_001372051.1(CASP8):c.*98C>T rs36155452 0.00015
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_032977.4(CASP10):c.*230G>A rs565567149 0.00014
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00014
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00013
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00013
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00013
NM_032977.4(CASP10):c.*846A>G rs41529249 0.00013
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_000043.6(FAS):c.*853C>T rs770098016 0.00012
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00012
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00011
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_015474.4(SAMHD1):c.*120C>T rs188941712 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001378687.1(ATP2C1):c.*343T>A rs777719092 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_001370466.1(NOD2):c.*1013A>G rs549273021 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00009
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00009
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_015474.4(SAMHD1):c.*362G>A rs886056646 0.00009
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00008
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00006
NM_001378687.1(ATP2C1):c.*1255G>A rs886057991 0.00006
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225 0.00005
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=) rs753216597 0.00005
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=) rs148190902 0.00005
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_032977.4(CASP10):c.*1257G>A rs886055414 0.00005
NM_032977.4(CASP10):c.*3365A>G rs886055429 0.00005
NM_032977.4(CASP10):c.*3835G>A rs536525827 0.00005
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00005
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00005
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000639.3(FASLG):c.*32T>C rs775421228 0.00004
NM_000639.3(FASLG):c.-16T>C rs781373207 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_001370466.1(NOD2):c.789C>T (p.Asp263=) rs749180535 0.00004
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_001378687.1(ATP2C1):c.*881A>G rs181188000 0.00004
NM_015474.4(SAMHD1):c.*503A>G rs757372495 0.00004
NM_015474.4(SAMHD1):c.*536C>T rs886056645 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_032977.4(CASP10):c.*3437C>A rs1349250158 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.*520T>C rs886047462 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00003
NM_001370466.1(NOD2):c.*186C>G rs886052045 0.00003
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_001372051.1(CASP8):c.*272A>G rs1439186063 0.00003
NM_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_032977.4(CASP10):c.*1327G>A rs1945654880 0.00003
NM_032977.4(CASP10):c.*1538T>A rs886055416 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00002
NM_001370466.1(NOD2):c.*394C>T rs886052048 0.00002
NM_001370466.1(NOD2):c.*609C>T rs1965489095 0.00002
NM_001372051.1(CASP8):c.*194T>A rs577963682 0.00002
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) rs367807709 0.00002
NM_001372051.1(CASP8):c.528C>T (p.Asn176=) rs774015258 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001378687.1(ATP2C1):c.*1203del rs886057988 0.00002
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*1564C>T rs886057993 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_015474.4(SAMHD1):c.*871G>A rs1030352932 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_032977.4(CASP10):c.*1366T>C rs886055415 0.00002
NM_032977.4(CASP10):c.*1954C>T rs998383242 0.00002
NM_032977.4(CASP10):c.*2844C>T rs886055424 0.00002
NM_032977.4(CASP10):c.*3478T>G rs886055431 0.00002
NM_032977.4(CASP10):c.*3845C>T rs886535066 0.00002
NM_032977.4(CASP10):c.*733A>T rs1019052979 0.00002
NM_000043.5(FAS):c.-288C>T rs938458478 0.00001
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.*174A>G rs776971935 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*286C>T rs886051241 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_001228.5(CASP8):c.-208A>G rs1576164512 0.00001
NM_001228.5(CASP8):c.-83T>C rs1275984964 0.00001
NM_001370466.1(NOD2):c.*1200A>G rs980810508 0.00001
NM_001370466.1(NOD2):c.*64G>C rs1053712094 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys) rs758913334 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001372051.1(CASP8):c.*304C>T rs886055433 0.00001
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala) rs771197994 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) rs759581547 0.00001
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) rs553241803 0.00001
NM_001378687.1(ATP2C1):c.*1204A>T rs886057989 0.00001
NM_001378687.1(ATP2C1):c.*1264T>C rs886057992 0.00001
NM_001378687.1(ATP2C1):c.*609A>G rs1198664761 0.00001
NM_001378687.1(ATP2C1):c.*946T>G rs886057987 0.00001
NM_001378687.1(ATP2C1):c.-180-72G>A rs951311479 0.00001
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_001378687.1(ATP2C1):c.-66C>T rs886057979 0.00001
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg) rs1329817993 0.00001
NM_001378687.1(ATP2C1):c.1571-11T>C rs2061653618 0.00001
NM_001378687.1(ATP2C1):c.2232C>A (p.Pro744=) rs761270371 0.00001
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val) rs765124724 0.00001
NM_001378687.1(ATP2C1):c.532-6C>T rs886057981 0.00001
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val) rs1349846001 0.00001
NM_001378687.1(ATP2C1):c.899+6T>C rs1430775611 0.00001
NM_015474.4(SAMHD1):c.*104G>C rs570535296 0.00001
NM_015474.4(SAMHD1):c.*648C>T rs1414917474 0.00001
NM_015474.4(SAMHD1):c.*711A>C rs886056644 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00001
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_032977.4(CASP10):c.*1038C>T rs886055412 0.00001
NM_032977.4(CASP10):c.*1395G>A rs747068686 0.00001
NM_032977.4(CASP10):c.*3019C>T rs548104022 0.00001
NM_032977.4(CASP10):c.*333C>T rs886055407 0.00001
NM_032977.4(CASP10):c.*3473T>G rs886055430 0.00001
NM_032977.4(CASP10):c.*657G>C rs886055408 0.00001
NM_032977.4(CASP10):c.*732T>A rs886055409 0.00001
NM_032977.4(CASP10):c.*740T>G rs1657316373 0.00001
NM_032977.4(CASP10):c.*905C>T rs886055411 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) rs779013005 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000639.3(FASLG):c.*601GT[13] rs10640513
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[17] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001228.5(CASP8):c.-117C>A rs1945936282
NM_001370466.1(NOD2):c.*183C>T rs547264433
NM_001370466.1(NOD2):c.*325G>A rs886052046
NM_001370466.1(NOD2):c.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.*422C>G rs886052049
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202A>G rs1963694151
NM_001370466.1(NOD2):c.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) rs104895478
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) rs1328584012
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) rs104895438
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) rs867131858
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn) rs756184386
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=) rs886052044
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) rs1965233783
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) rs1964416023
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001372051.1(CASP8):c.*223C>T rs1949586192
NM_001372051.1(CASP8):c.*266C>G rs749953038
NM_001372051.1(CASP8):c.*346C>T rs1949592559
NM_001372051.1(CASP8):c.*578C>A rs886055434
NM_001372051.1(CASP8):c.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) rs771150445
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001378687.1(ATP2C1):c.*1021G>C rs2062932036
NM_001378687.1(ATP2C1):c.*1471T>A rs878906207
NM_001378687.1(ATP2C1):c.*1786G>A rs2062970980
NM_001378687.1(ATP2C1):c.*322ATCT[1] rs886057984
NM_001378687.1(ATP2C1):c.*350del rs200037424
NM_001378687.1(ATP2C1):c.*493TGTAA[1] rs141448272
NM_001378687.1(ATP2C1):c.*581T>C rs1236440824
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.-180-57C>T rs115940289
NM_001378687.1(ATP2C1):c.-64A>G rs886057980
NM_001378687.1(ATP2C1):c.-80TC[1] rs886057978
NM_001378687.1(ATP2C1):c.1309-13T>C rs533035827
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys) rs781604274
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=) rs2062610077
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=) rs886057983
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser) rs2059404554
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile) rs1173877573
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=) rs886057982
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_015474.4(SAMHD1):c.*882T>C rs1990087887
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_032977.3(CASP10):c.-285C>T rs530526445
NM_032977.3(CASP10):c.-314G>A rs1284865224
NM_032977.4(CASP10):c.*1022C>T rs1323062174
NM_032977.4(CASP10):c.*1125T>C rs886055413
NM_032977.4(CASP10):c.*116C>A rs912143180
NM_032977.4(CASP10):c.*1258G>T rs1945653563
NM_032977.4(CASP10):c.*1520C>T rs41331447
NM_032977.4(CASP10):c.*1542A>T rs41484449
NM_032977.4(CASP10):c.*1909A>G rs886055417
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2381G>C rs1945684785
NM_032977.4(CASP10):c.*2425C>G rs886055421
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2600G>T rs886055423
NM_032977.4(CASP10):c.*2741C>G rs1481895284
NM_032977.4(CASP10):c.*2869A>C rs886055425
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*2979C>T rs886055427
NM_032977.4(CASP10):c.*2986C>T rs886055428
NM_032977.4(CASP10):c.*3510G>A rs1945713262
NM_032977.4(CASP10):c.*3591A>G rs1297066259
NM_032977.4(CASP10):c.*607G>A rs1326674355
NM_032977.4(CASP10):c.*632G>A rs1945638403
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.*911T>G rs1945646004
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) rs1945312624
NM_032977.4(CASP10):c.1316G>T (p.Gly439Val) rs764646945
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) rs779013005
NM_032977.4(CASP10):c.923-12G>T rs201904750
NM_032977.4(CASP10):c.923-12del rs367989998

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