ClinVar Miner

List of variants studied for Alzheimer disease

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 960
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000447.3(PSEN2):c.1191+24G>A rs2855562 0.54601
NM_000447.3(PSEN2):c.-356A>G rs12758915 0.49997
NM_000447.3(PSEN2):c.*270C>T rs8383 0.49189
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000447.3(PSEN2):c.142-42G>A rs1295643 0.48629
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000447.3(PSEN2):c.-275C>T rs1295645 0.15385
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000484.4(APP):c.-111G>C rs459543 0.08614
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000447.3(PSEN2):c.-43C>T rs7961 0.08031
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.*2864A>C rs362389 0.05717
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000447.2(PSEN2):c.*536G>A rs16846619 0.02363
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.*3637C>T rs114000457 0.01606
NM_000021.4(PSEN1):c.*3360A>G rs362390 0.01605
NM_000021.4(PSEN1):c.*3525A>G rs362391 0.01605
NM_000021.4(PSEN1):c.*1690T>C rs10143618 0.01604
NM_000021.4(PSEN1):c.*2430T>C rs362388 0.01604
NM_000021.4(PSEN1):c.*3823G>A rs362394 0.01595
NM_000021.4(PSEN1):c.*4147T>G rs362396 0.01523
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000447.3(PSEN2):c.-338A>G rs6665033 0.01457
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_000447.3(PSEN2):c.*487G>C rs7962 0.01294
NM_000484.4(APP):c.1299+9T>C rs114675472 0.01268
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000484.4(APP):c.1224+20C>T rs45543035 0.01021
NM_000484.4(APP):c.*590C>A rs45455403 0.00936
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00856
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_000484.3(APP):c.-156G>C rs45476095 0.00751
NM_000021.4(PSEN1):c.*3566A>G rs74061007 0.00746
NM_000021.4(PSEN1):c.*3358A>G rs74061006 0.00741
NM_000484.4(APP):c.*967G>A rs45541739 0.00669
NM_000484.3(APP):c.*1125T>G rs45599935 0.00640
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_000447.3(PSEN2):c.*405G>T rs116807339 0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_000447.3(PSEN2):c.423C>T (p.Asn141=) rs116003409 0.00481
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.2187C>T (p.Asn729=) rs113203253 0.00469
NM_000447.2(PSEN2):c.-400C>T rs186308126 0.00465
NM_000021.4(PSEN1):c.*1791A>T rs177412 0.00446
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) rs143227762 0.00413
NM_012268.4(PLD3):c.694G>A (p.Val232Met) rs145999145 0.00365
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000484.4(APP):c.*914G>A rs736479 0.00338
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_000021.4(PSEN1):c.*4030A>G rs186752250 0.00283
NM_000021.4(PSEN1):c.*3941C>A rs144455736 0.00276
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=) rs138494303 0.00248
NM_000484.4(APP):c.*372A>G rs187940037 0.00231
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
NM_000447.3(PSEN2):c.*120G>A rs143059995 0.00226
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NM_001831.4(CLU):c.608C>T (p.Thr203Ile) rs41276297 0.00216
NM_000021.4(PSEN1):c.*449T>C rs112911413 0.00206
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_000041.4(APOE):c.137T>C (p.Leu46Pro) rs769452 0.00199
NM_000021.4(PSEN1):c.*2108G>A rs368329004 0.00187
NM_001110.4(ADAM10):c.326-10T>C rs111517153 0.00184
NM_000484.4(APP):c.826A>T (p.Thr276Ser) rs202198008 0.00176
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_001110.4(ADAM10):c.510G>C (p.Gln170His) rs61751103 0.00149
NM_000447.3(PSEN2):c.-82T>C rs200607063 0.00144
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000021.4(PSEN1):c.*3508G>A rs150550252 0.00137
NM_000021.4(PSEN1):c.*4113G>A rs190718487 0.00125
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_000484.4(APP):c.1458+19G>A rs112732953 0.00109
NM_000484.4(APP):c.741C>T (p.Asp247=) rs148832151 0.00106
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000484.3(APP):c.-200G>A rs200621906 0.00100
NM_000484.4(APP):c.*624A>G rs199680232 0.00100
NC_000021.9:g.26171301C>T rs187510057 0.00096
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_000484.4(APP):c.-44C>T rs200289921 0.00093
NM_000041.4(APOE):c.651C>T (p.Ala217=) rs72654468 0.00090
NM_000484.4(APP):c.663-7T>C rs183084252 0.00089
NM_000447.3(PSEN2):c.*306G>A rs145129440 0.00086
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
NM_000021.4(PSEN1):c.*166T>A rs192302611 0.00080
NM_000603.5(NOS3):c.465C>G (p.Ala155=) rs200774720 0.00080
NM_000021.4(PSEN1):c.*328C>T rs200067194 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_000021.4(PSEN1):c.*71A>G rs201452973 0.00053
NM_000021.4(PSEN1):c.-191C>T rs199680675 0.00053
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707 0.00050
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000447.3(PSEN2):c.-184C>T rs149590162 0.00048
NM_000021.4(PSEN1):c.-180C>T rs200632899 0.00046
NM_000484.4(APP):c.*489A>G rs199862130 0.00046
NM_000484.4(APP):c.663-9C>A rs199587668 0.00045
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 0.00041
NM_000021.4(PSEN1):c.*3848G>C rs886050682 0.00039
NM_000484.4(APP):c.226G>A (p.Val76Ile) rs151188448 0.00039
NM_000021.4(PSEN1):c.*2604C>T rs773295728 0.00038
NM_000021.4(PSEN1):c.*3328C>G rs181726819 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.*1585A>T rs185405511 0.00035
NM_000484.4(APP):c.1225-11T>A rs201326163 0.00034
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000484.4(APP):c.*724C>T rs146774213 0.00033
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000484.4(APP):c.225+19C>G rs55661697 0.00032
NM_000021.4(PSEN1):c.*2529G>T rs574941431 0.00031
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.*2659A>T rs531711335 0.00029
NM_000021.4(PSEN1):c.*4078C>T rs533047073 0.00029
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000021.4(PSEN1):c.*4367T>C rs574271978 0.00028
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
NM_000021.4(PSEN1):c.*2325A>G rs546052493 0.00026
NM_000447.3(PSEN2):c.753C>T (p.Ser251=) rs200332829 0.00026
NM_000021.4(PSEN1):c.*768A>G rs200194433 0.00025
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000021.4(PSEN1):c.*3130C>T rs550055242 0.00023
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016 0.00022
NM_000021.4(PSEN1):c.*1625A>G rs750857788 0.00020
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353 0.00019
NM_000484.4(APP):c.*194A>C rs199977643 0.00019
NM_000484.4(APP):c.1800G>A (p.Thr600=) rs138434918 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_000484.4(APP):c.1794C>T (p.Thr598=) rs201817181 0.00018
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) rs367645069 0.00017
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 0.00014
NM_000021.4(PSEN1):c.*1316G>T rs909535762 0.00013
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000447.3(PSEN2):c.*103C>T rs571670427 0.00013
NM_000447.3(PSEN2):c.*378G>C rs200173939 0.00013
NM_000447.3(PSEN2):c.165C>T (p.Asp55=) rs139332886 0.00013
NM_000447.3(PSEN2):c.207C>T (p.Pro69=) rs142546082 0.00013
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000484.4(APP):c.*738T>C rs201621005 0.00012
NM_000484.4(APP):c.1833A>G (p.Gly611=) rs200922667 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000447.3(PSEN2):c.1163C>T (p.Thr388Met) rs143549266 0.00011
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr) rs151048692 0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys) rs547494670 0.00011
NM_000484.4(APP):c.*454A>G rs200492624 0.00011
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579 0.00011
NM_000021.3(PSEN1):c.-226C>A rs200531676 0.00010
NM_000021.4(PSEN1):c.*1418G>A rs886050668 0.00010
NM_000021.4(PSEN1):c.*2865C>A rs886050679 0.00010
NM_000447.3(PSEN2):c.*377C>T rs202160009 0.00010
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 0.00010
NM_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly) rs145518263 0.00010
NM_000021.4(PSEN1):c.*1980C>T rs188214574 0.00009
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000447.3(PSEN2):c.*20G>A rs201399057 0.00009
NM_000484.4(APP):c.1248A>G (p.Ala416=) rs556540232 0.00009
NM_000484.4(APP):c.225+7C>A rs201865168 0.00009
NM_000484.4(APP):c.57+16C>T rs201003643 0.00009
NM_000484.4(APP):c.786C>T (p.Tyr262=) rs140941257 0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344 0.00008
NM_000021.4(PSEN1):c.480+17G>A rs375376095 0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000484.4(APP):c.1091-18T>G rs201718786 0.00008
NM_000021.4(PSEN1):c.*1874G>T rs141117435 0.00007
NM_000021.4(PSEN1):c.*265A>G rs199643125 0.00007
NM_000021.4(PSEN1):c.*2846G>A rs370528248 0.00007
NM_000484.4(APP):c.1650C>T (p.Asn550=) rs201877705 0.00007
NM_000021.4(PSEN1):c.*1380C>T rs181825217 0.00006
NM_000021.4(PSEN1):c.*1725A>G rs886050671 0.00006
NM_000021.4(PSEN1):c.*211G>A rs200186908 0.00006
NM_000021.4(PSEN1):c.*2161G>A rs535590491 0.00006
NM_000021.4(PSEN1):c.*229C>T rs199738569 0.00006
NM_000021.4(PSEN1):c.*2543C>T rs138620990 0.00006
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) rs201922151 0.00006
NM_000447.3(PSEN2):c.639A>G (p.Ala213=) rs555809980 0.00006
NM_000484.4(APP):c.-132G>T rs886056998 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
NM_000484.4(APP):c.1790T>G (p.Leu597Trp) rs765301301 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_000484.4(APP):c.975C>T (p.Gly325=) rs201622977 0.00006
NM_000021.4(PSEN1):c.*119T>C rs201908084 0.00005
NM_000021.4(PSEN1):c.*3789G>A rs867100875 0.00005
NM_000021.4(PSEN1):c.*4338A>G rs1032264220 0.00005
NM_000447.3(PSEN2):c.*132T>C rs186288674 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000484.4(APP):c.1726G>A (p.Val576Ile) rs200769792 0.00005
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000484.4(APP):c.885C>T (p.Ala295=) rs199890425 0.00005
NM_000021.3(PSEN1):c.-214T>G rs886050662 0.00004
NM_000021.4(PSEN1):c.*1415C>A rs574671310 0.00004
NM_000021.4(PSEN1):c.*1889A>G rs1220105113 0.00004
NM_000021.4(PSEN1):c.*2017A>T rs538178628 0.00004
NM_000021.4(PSEN1):c.*2401C>T rs886050676 0.00004
NM_000021.4(PSEN1):c.*3199C>T rs371718090 0.00004
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000447.3(PSEN2):c.*284T>A rs199645229 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys) rs200931244 0.00004
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) rs533813519 0.00004
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met) rs149354305 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000484.4(APP):c.*355A>G rs939934369 0.00004
NM_000484.4(APP):c.1024G>A (p.Gly342Ser) rs200727285 0.00004
NM_000484.4(APP):c.1406G>A (p.Arg469His) rs199549173 0.00004
NM_000484.4(APP):c.1751C>G (p.Pro584Arg) rs145371658 0.00004
NM_000484.4(APP):c.1809C>T (p.Thr603=) rs150151009 0.00004
NM_000484.4(APP):c.186C>T (p.Cys62=) rs201970902 0.00004
NM_000484.4(APP):c.2020G>C (p.Glu674Gln) rs752361848 0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000484.4(APP):c.298C>T (p.Arg100Trp) rs200347552 0.00004
NM_000484.4(APP):c.417G>A (p.Glu139=) rs779803206 0.00004
NM_000484.4(APP):c.58-11T>G rs200974058 0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn) rs750279232 0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 0.00004
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter) rs770510230 0.00004
NM_000021.4(PSEN1):c.*1792T>C rs886050672 0.00003
NM_000021.4(PSEN1):c.*1958T>C rs779158922 0.00003
NM_000021.4(PSEN1):c.*2160C>T rs886050674 0.00003
NM_000021.4(PSEN1):c.*2330G>T rs886050675 0.00003
NM_000021.4(PSEN1):c.*2836C>T rs886050678 0.00003
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962 0.00003
NM_000041.4(APOE):c.249C>T (p.Asp83=) rs767980905 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000447.3(PSEN2):c.1011C>T (p.Pro337=) rs769386876 0.00003
NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) rs199547508 0.00003
NM_000447.3(PSEN2):c.156C>T (p.Asn52=) rs749675208 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000484.4(APP):c.*1015T>G rs202108412 0.00003
NM_000484.4(APP):c.*663C>T rs572356515 0.00003
NM_000484.4(APP):c.1033+19G>A rs764443273 0.00003
NM_000484.4(APP):c.1137C>T (p.Leu379=) rs199526286 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.1665C>T (p.Ala555=) rs200846684 0.00003
NM_000484.4(APP):c.1722T>C (p.Asp574=) rs201794320 0.00003
NM_000484.4(APP):c.1849G>A (p.Asp617Asn) rs201479601 0.00003
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000484.4(APP):c.225+13C>T rs200888218 0.00003
NM_000484.4(APP):c.46C>T (p.Arg16Trp) rs202070273 0.00003
NM_000484.4(APP):c.890C>T (p.Thr297Met) rs557227002 0.00003
NM_032968.5(PCDH11X):c.2279A>T (p.Asp760Val) rs781770086 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=) rs201453174 0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) rs199637432 0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) rs757698754 0.00002
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile) rs867544084 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000447.3(PSEN2):c.177C>T (p.Asp59=) rs767577993 0.00002
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773 0.00002
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640 0.00002
NM_000447.3(PSEN2):c.390G>C (p.Ser130=) rs781597971 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro) rs781436525 0.00002
NM_000484.4(APP):c.1034-6C>G rs767889396 0.00002
NM_000484.4(APP):c.1463G>A (p.Arg488His) rs200587958 0.00002
NM_000484.4(APP):c.1688-4T>G rs374277868 0.00002
NM_000484.4(APP):c.1775C>T (p.Ala592Val) rs754790092 0.00002
NM_000484.4(APP):c.1860G>A (p.Pro620=) rs773060369 0.00002
NM_000484.4(APP):c.1957C>A (p.Arg653=) rs370979414 0.00002
NM_000484.4(APP):c.504C>T (p.Tyr168=) rs752661056 0.00002
NM_000484.4(APP):c.574G>A (p.Glu192Lys) rs759517529 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_001145118.2(GRID2IP):c.429+2T>G rs1413118387 0.00002
NM_000021.4(PSEN1):c.*1626C>A rs886050669 0.00001
NM_000021.4(PSEN1):c.*2357T>A rs1250635285 0.00001
NM_000021.4(PSEN1):c.*23T>C rs886050664 0.00001
NM_000021.4(PSEN1):c.*3619A>G rs886050681 0.00001
NM_000021.4(PSEN1):c.*3669G>A rs748848893 0.00001
NM_000021.4(PSEN1):c.*4339T>C rs757221245 0.00001
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) rs1018763711 0.00001
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=) rs1899950667 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) rs771002035 0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) rs747363386 0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) rs750585566 0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977 0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389 0.00001
NM_000021.4(PSEN1):c.784T>C (p.Leu262=) rs1369926746 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000410.4(HFE):c.76+2T>C rs776994377 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000447.3(PSEN2):c.*210G>A rs200296479 0.00001
NM_000447.3(PSEN2):c.*72T>C rs886046062 0.00001
NM_000447.3(PSEN2):c.1140G>A (p.Thr380=) rs377494557 0.00001
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) rs756609078 0.00001
NM_000447.3(PSEN2):c.1269G>A (p.Gly423=) rs748435174 0.00001
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=) rs144318314 0.00001
NM_000447.3(PSEN2):c.201G>C (p.Gly67=) rs1661152624 0.00001
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) rs765144719 0.00001
NM_000447.3(PSEN2):c.273G>C (p.Leu91=) rs921254742 0.00001
NM_000447.3(PSEN2):c.372C>T (p.Phe124=) rs753371172 0.00001
NM_000447.3(PSEN2):c.401G>A (p.Arg134His) rs756346917 0.00001
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) rs749301595 0.00001
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812 0.00001
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg) rs755101354 0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880 0.00001
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) rs202003390 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000447.3(PSEN2):c.787+8G>A rs751014475 0.00001
NM_000447.3(PSEN2):c.887-3C>T rs1230394996 0.00001
NM_000447.3(PSEN2):c.927C>T (p.Pro309=) rs200326485 0.00001
NM_000484.4(APP):c.*289C>T rs199534609 0.00001
NM_000484.4(APP):c.*356T>G rs1445554583 0.00001
NM_000484.4(APP):c.1008C>T (p.Tyr336=) rs772676633 0.00001
NM_000484.4(APP):c.1030G>A (p.Ala344Thr) rs201045185 0.00001
NM_000484.4(APP):c.1076G>A (p.Arg359Gln) rs1057524107 0.00001
NM_000484.4(APP):c.1090+4C>T rs532690231 0.00001
NM_000484.4(APP):c.1122C>T (p.Ala374=) rs780257087 0.00001
NM_000484.4(APP):c.1123G>A (p.Val375Ile) rs141331202 0.00001
NM_000484.4(APP):c.1210G>C (p.Glu404Gln) rs201668897 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049 0.00001
NM_000484.4(APP):c.130C>T (p.His44Tyr) rs774281569 0.00001
NM_000484.4(APP):c.1350A>G (p.Arg450=) rs746537655 0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000484.4(APP):c.1454C>T (p.Pro485Leu) rs369990738 0.00001
NM_000484.4(APP):c.1467C>T (p.His489=) rs1214877315 0.00001
NM_000484.4(APP):c.1580G>A (p.Arg527Gln) rs201466202 0.00001
NM_000484.4(APP):c.1651G>A (p.Val551Met) rs761339914 0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val) rs773379255 0.00001
NM_000484.4(APP):c.1799C>T (p.Thr600Met) rs200088099 0.00001
NM_000484.4(APP):c.1814A>G (p.Glu605Gly) rs748980864 0.00001
NM_000484.4(APP):c.1827G>C (p.Val609=) rs201858248 0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363 0.00001
NM_000484.4(APP):c.19C>G (p.Leu7Val) rs767211549 0.00001
NM_000484.4(APP):c.2004A>G (p.Glu668=) rs1459466429 0.00001
NM_000484.4(APP):c.2064+10A>T rs202051599 0.00001
NM_000484.4(APP):c.2070C>T (p.Phe690=) rs201724975 0.00001
NM_000484.4(APP):c.2139G>A (p.Ala713=) rs749919142 0.00001
NM_000484.4(APP):c.2281A>G (p.Thr761Ala) rs766455623 0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996 0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu) rs950592627 0.00001
NM_000484.4(APP):c.302G>A (p.Gly101Asp) rs532382285 0.00001
NM_000484.4(APP):c.33C>T (p.Ala11=) rs754674097 0.00001
NM_000484.4(APP):c.355+16G>A rs201791126 0.00001
NM_000484.4(APP):c.44C>T (p.Ala15Val) rs913925398 0.00001
NM_000484.4(APP):c.533A>G (p.Lys178Arg) rs758637653 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
NM_000484.4(APP):c.735C>T (p.Asp245=) rs201941279 0.00001
NM_000484.4(APP):c.736G>A (p.Glu246Lys) rs147485129 0.00001
NM_000484.4(APP):c.762A>G (p.Val254=) rs1386522903 0.00001
NM_000484.4(APP):c.820A>G (p.Thr274Ala) rs200159151 0.00001
NM_000484.4(APP):c.964G>A (p.Gly322Ser) rs866061394 0.00001
NC_000001.11:g.(?_226881888)_(226895599_?)del
NC_000014.8:g.(?_73673074)_(73673200_?)del
NC_000014.9:g.73136378del rs148370307
NC_000021.7:g.13636378_28138533dup
NC_000021.8:g.(?_27113910)_(27542938_?)dup
NC_000021.8:g.(?_27251861)_(27544138_?)dup
NC_000021.8:g.(?_27253981)_(27277409_?)del
NC_000021.8:g.(?_27462239)_(27542938_?)dup
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*1484A>C rs147866042
NM_000021.4(PSEN1):c.*1716TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1858T>A rs1943770310
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1884G>T rs1900111689
NM_000021.4(PSEN1):c.*1910A>G rs1900112018
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2695G>A rs1900127252
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*3033CT[2] rs886050680
NM_000021.4(PSEN1):c.*3321G>C rs983079104
NM_000021.4(PSEN1):c.*3484A>C rs1900141899
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.*400G>A rs1190503987
NM_000021.4(PSEN1):c.*438C>T rs1900072345
NM_000021.4(PSEN1):c.*562T>C rs1594760800
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*657C>T rs201752111
NM_000021.4(PSEN1):c.*801C>T rs201513640
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.-201A>C rs1896745950
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp) rs1555357544
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) rs63750687
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
NM_000021.4(PSEN1):c.1163T>C (p.Phe388Ser)
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) rs1566656702
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr) rs2140145565
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) rs1566657804
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val)
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys) rs1594998354
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.300dup (p.Lys101Ter) rs2140037322
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) rs1897876766
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338+7A>G rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) rs63750550
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) rs63750378
NM_000021.4(PSEN1):c.375G>C (p.Val125=) rs1897955823
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr) rs63751106
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) rs1566630910
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) rs63750306
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) rs63750265
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) rs1566638673
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) rs63750082
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.640C>A (p.His214Asn) rs63751003
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) rs63750009
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) rs1362575880
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe) rs1898781850
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) rs121917807
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr) rs63751229
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) rs1899028511
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly)
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys) rs2140105309
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) rs186495252
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) rs63751139
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.869-1624_956-2452del
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000021.4(PSEN1):c.869-2A>G
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.869-3C>A rs2140125016
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) rs2140125296
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_000041.4(APOE):c.-24+82G>A
NM_000250.2(MPO):c.1031G>A (p.Gly344Asp) rs1970460686
NM_000447.3(PSEN2):c.*479G>T rs201177570
NM_000447.3(PSEN2):c.-136G>A rs1660571955
NM_000447.3(PSEN2):c.-144A>G rs886046061
NM_000447.3(PSEN2):c.-278C>A rs199532840
NM_000447.3(PSEN2):c.-278C>T rs199532840
NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)
NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)
NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)
NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)
NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)
NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu) rs2102690580
NM_000447.3(PSEN2):c.1073-10C>G
NM_000447.3(PSEN2):c.1073-10C>T rs201191318
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=) rs369274454
NM_000447.3(PSEN2):c.1191+8G>C
NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)
NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)
NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)
NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)
NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) rs1387034807
NM_000447.3(PSEN2):c.1257C>T (p.Ser419=) rs2102698755
NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)
NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)
NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)
NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly) rs2102668369
NM_000447.3(PSEN2):c.141+11C>G rs1249275874
NM_000447.3(PSEN2):c.142-16A>C
NM_000447.3(PSEN2):c.142-17G>A
NM_000447.3(PSEN2):c.142-29T>C rs1295644
NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)
NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.216G>A (p.Pro72=)
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) rs1405799988
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.255G>A (p.Ala85=)
NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)
NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)
NM_000447.3(PSEN2):c.277G>A (p.Val93Met) rs2102672691
NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
NM_000447.3(PSEN2):c.298A>G (p.Ile100Val) rs1182707759
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) rs1571951543
NM_000447.3(PSEN2):c.306G>A (p.Val102=)
NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)
NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)
NM_000447.3(PSEN2):c.348T>C (p.Asn116=)
NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)
NM_000447.3(PSEN2):c.356+11_356+13del
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.387C>T (p.Pro129=)
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.390G>A (p.Ser130=)
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)
NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)
NM_000447.3(PSEN2):c.498+30G>C rs2236910
NM_000447.3(PSEN2):c.499-10T>C
NM_000447.3(PSEN2):c.499-15A>G
NM_000447.3(PSEN2):c.519C>T (p.Ile173=) rs2102682546
NM_000447.3(PSEN2):c.537G>A (p.Leu179=)
NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)
NM_000447.3(PSEN2):c.54G>A (p.Thr18=)
NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)
NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
NM_000447.3(PSEN2):c.589G>A (p.Val197Met)
NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)
NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu) rs2102684411
NM_000447.3(PSEN2):c.713T>C (p.Leu238Pro)
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) rs371562367
NM_000447.3(PSEN2):c.744A>G (p.Pro248=)
NM_000447.3(PSEN2):c.788-14C>T
NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr) rs2102668085
NM_000447.3(PSEN2):c.842C>A (p.Ala281Asp)
NM_000447.3(PSEN2):c.843C>T (p.Ala281=) rs2102686884
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) rs1208742830
NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)
NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
NM_000447.3(PSEN2):c.886+15C>T
NM_000447.3(PSEN2):c.886+2_886+4del rs1553268799
NM_000447.3(PSEN2):c.887-24T>C rs2802267
NM_000447.3(PSEN2):c.887-4C>G
NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000447.3(PSEN2):c.970+3_970+6del rs775692311
NM_000447.3(PSEN2):c.971-18C>T
NM_000447.3(PSEN2):c.971-9G>C rs2102690274
NM_000484.3(APP):c.-170C>A rs538664273
NM_000484.3(APP):c.-186G>T rs886056999
NM_000484.4(APP):c.*521T>C rs2036961192
NM_000484.4(APP):c.*735G>A rs202132811
NM_000484.4(APP):c.*7G>A rs201922766
NM_000484.4(APP):c.*810C>T rs2036941224
NM_000484.4(APP):c.*97C>A rs886056992
NM_000484.4(APP):c.-111G>T rs459543
NM_000484.4(APP):c.1000G>C (p.Glu334Gln)
NM_000484.4(APP):c.1018G>T (p.Val340Leu)
NM_000484.4(APP):c.1021_1033+438del
NM_000484.4(APP):c.102T>C (p.Ile34=)
NM_000484.4(APP):c.1034-4A>G
NM_000484.4(APP):c.1035G>T (p.Met345Ile)
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
NM_000484.4(APP):c.105C>A (p.Ala35=)
NM_000484.4(APP):c.1066C>G (p.Pro356Ala)
NM_000484.4(APP):c.1072G>C (p.Ala358Pro) rs1008281141
NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln) rs1601155187
NM_000484.4(APP):c.1090+5G>A
NM_000484.4(APP):c.1090C>T (p.Leu364Phe) rs749453173
NM_000484.4(APP):c.1091-20_1091-18del
NM_000484.4(APP):c.1137C>G (p.Leu379=) rs199526286
NM_000484.4(APP):c.1164T>C (p.His388=) rs2042467013
NM_000484.4(APP):c.1190G>A (p.Arg397Lys) rs913378009
NM_000484.4(APP):c.1191G>A (p.Arg397=)
NM_000484.4(APP):c.1199C>T (p.Ala400Val) rs1334791875
NM_000484.4(APP):c.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1224+16C>A rs199585064
NM_000484.4(APP):c.1264A>C (p.Asn422His) rs2146575525
NM_000484.4(APP):c.1280A>T (p.Asp427Val) rs1358953437
NM_000484.4(APP):c.1288G>A (p.Ala430Thr)
NM_000484.4(APP):c.1293T>A (p.Val431=)
NM_000484.4(APP):c.1300-11T>G
NM_000484.4(APP):c.1300-3C>A rs1342453998
NM_000484.4(APP):c.1345G>A (p.Glu449Lys)
NM_000484.4(APP):c.1359G>C (p.Leu453=)
NM_000484.4(APP):c.1366A>G (p.Thr456Ala)
NM_000484.4(APP):c.1369C>T (p.His457Tyr)
NM_000484.4(APP):c.1402C>T (p.Arg468Cys) rs1162419578
NM_000484.4(APP):c.1416C>T (p.Ala472=)
NM_000484.4(APP):c.1434C>T (p.Thr478=)
NM_000484.4(APP):c.1457G>A (p.Arg486Gln) rs200268317
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.1459-15A>T
NM_000484.4(APP):c.1462C>T (p.Arg488Cys) rs2146493615
NM_000484.4(APP):c.1475A>G (p.Asn492Ser)
NM_000484.4(APP):c.1491T>C (p.Tyr497=) rs755218930
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
NM_000484.4(APP):c.1530G>C (p.Lys510Asn) rs767201930
NM_000484.4(APP):c.1569C>T (p.Ala523=)
NM_000484.4(APP):c.1570G>A (p.Ala524Thr)
NM_000484.4(APP):c.1587+14A>G
NM_000484.4(APP):c.1587+6C>T
NM_000484.4(APP):c.1587+7G>A rs1463470081
NM_000484.4(APP):c.15G>C (p.Leu5Phe)
NM_000484.4(APP):c.1612T>C (p.Tyr538His)
NM_000484.4(APP):c.1641G>T (p.Leu547=) rs199860711
NM_000484.4(APP):c.1642C>G (p.Leu548Val) rs886056994
NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)
NM_000484.4(APP):c.1649A>G (p.Asn550Ser)
NM_000484.4(APP):c.1653G>A (p.Val551=)
NM_000484.4(APP):c.1658C>T (p.Ala553Val) rs2146488766
NM_000484.4(APP):c.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.1680T>A (p.Asp560Glu)
NM_000484.4(APP):c.1684G>A (p.Val562Ile) rs199586073
NM_000484.4(APP):c.1748A>G (p.Glu583Gly) rs778495527
NM_000484.4(APP):c.1750C>G (p.Pro584Ala)
NM_000484.4(APP):c.1754G>A (p.Arg585Lys) rs1265765015
NM_000484.4(APP):c.1770C>T (p.Asn590=)
NM_000484.4(APP):c.1815G>A (p.Glu605=)
NM_000484.4(APP):c.1824C>T (p.Pro608=)
NM_000484.4(APP):c.1848C>T (p.Asp616=)
NM_000484.4(APP):c.1896C>T (p.Asn632=) rs2146319673
NM_000484.4(APP):c.1905C>T (p.Asn635=)
NM_000484.4(APP):c.1909+18C>A
NM_000484.4(APP):c.1909+5G>A
NM_000484.4(APP):c.1909+9C>T rs201352332
NM_000484.4(APP):c.1910-18C>T
NM_000484.4(APP):c.1910-7T>C rs2146296686
NM_000484.4(APP):c.1916C>A (p.Pro639His) rs771964280
NM_000484.4(APP):c.1926C>T (p.Ala642=)
NM_000484.4(APP):c.1963+11C>T rs763648992
NM_000484.4(APP):c.1963+18C>T
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)
NM_000484.4(APP):c.1978A>T (p.Asn660Tyr) rs770773038
NM_000484.4(APP):c.1979A>G (p.Asn660Ser)
NM_000484.4(APP):c.1980T>C (p.Asn660=)
NM_000484.4(APP):c.1988C>T (p.Thr663Met)
NM_000484.4(APP):c.1996A>T (p.Ile666Phe)
NM_000484.4(APP):c.2010G>A (p.Lys670=)
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2012T>C (p.Met671Thr) rs2038161468
NM_000484.4(APP):c.2018C>T (p.Ala673Val) rs193922916
NM_000484.4(APP):c.2019A>C (p.Ala673=)
NM_000484.4(APP):c.2046A>G (p.Glu682=)
NM_000484.4(APP):c.2047G>A (p.Val683Ile)
NM_000484.4(APP):c.205A>G (p.Ile69Val)
NM_000484.4(APP):c.2061A>C (p.Lys687Asn)
NM_000484.4(APP):c.2064+4C>T
NM_000484.4(APP):c.2065-14_2065-12del
NM_000484.4(APP):c.2065-17_2065-15del
NM_000484.4(APP):c.2065-4C>T
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2079A>G (p.Glu693=) rs768446605
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2086G>A (p.Gly696Ser)
NM_000484.4(APP):c.2106C>G (p.Ile702Met)
NM_000484.4(APP):c.2115C>T (p.Leu705=)
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile) rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val) rs2146237965
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2147T>C (p.Ile716Thr) rs63750851
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2155A>C (p.Thr719Pro) rs2146237857
NM_000484.4(APP):c.2175G>C (p.Lys725Asn) rs1569014114
NM_000484.4(APP):c.2211+11T>C
NM_000484.4(APP):c.2212-12_2212-10del rs753046287
NM_000484.4(APP):c.2212-15C>T
NM_000484.4(APP):c.2212-9_2212-6del rs765657163
NM_000484.4(APP):c.2240G>A (p.Arg747His)
NM_000484.4(APP):c.2241C>T (p.Arg747=) rs2036996538
NM_000484.4(APP):c.2253G>C (p.Lys751Asn) rs1381242897
NM_000484.4(APP):c.225A>G (p.Glu75=)
NM_000484.4(APP):c.226-3C>T
NM_000484.4(APP):c.226-6T>C
NM_000484.4(APP):c.226-8T>C
NM_000484.4(APP):c.2265C>T (p.Asn755=)
NM_000484.4(APP):c.2267G>A (p.Gly756Asp) rs2146193044
NM_000484.4(APP):c.2271C>T (p.Tyr757=)
NM_000484.4(APP):c.2285A>T (p.Tyr762Phe) rs373482247
NM_000484.4(APP):c.240G>T (p.Leu80=)
NM_000484.4(APP):c.24C>T (p.Leu8=)
NM_000484.4(APP):c.305G>A (p.Arg102His)
NM_000484.4(APP):c.309G>A (p.Lys103=)
NM_000484.4(APP):c.312G>A (p.Gln104=)
NM_000484.4(APP):c.347G>A (p.Arg116His) rs2061787725
NM_000484.4(APP):c.355+11C>T
NM_000484.4(APP):c.355+12G>A
NM_000484.4(APP):c.355+16G>C
NM_000484.4(APP):c.355+6C>T rs1555873548
NM_000484.4(APP):c.355+8G>A
NM_000484.4(APP):c.419G>C (p.Arg140Thr)
NM_000484.4(APP):c.432C>T (p.Cys144=)
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
NM_000484.4(APP):c.446A>G (p.His149Arg)
NM_000484.4(APP):c.456C>T (p.Thr152=)
NM_000484.4(APP):c.459C>T (p.Val153=)
NM_000484.4(APP):c.462C>G (p.Ala154=) rs200398369
NM_000484.4(APP):c.462C>T (p.Ala154=)
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.468+16T>C
NM_000484.4(APP):c.469-5T>C
NM_000484.4(APP):c.496C>T (p.His166Tyr)
NM_000484.4(APP):c.510G>A (p.Met170Ile)
NM_000484.4(APP):c.534G>T (p.Lys178Asn)
NM_000484.4(APP):c.563C>T (p.Pro188Leu)
NM_000484.4(APP):c.565C>A (p.Leu189Met)
NM_000484.4(APP):c.565C>T (p.Leu189=)
NM_000484.4(APP):c.57+14C>T
NM_000484.4(APP):c.57+15T>C
NM_000484.4(APP):c.58-3C>T
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
NM_000484.4(APP):c.583A>G (p.Asn195Asp) rs2146905389
NM_000484.4(APP):c.584A>G (p.Asn195Ser)
NM_000484.4(APP):c.621T>C (p.Asp207=)
NM_000484.4(APP):c.634G>A (p.Gly212Arg)
NM_000484.4(APP):c.63C>A (p.Pro21=)
NM_000484.4(APP):c.663-10G>A
NM_000484.4(APP):c.713AAG[3] (p.Glu241del) rs754150568
NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)
NM_000484.4(APP):c.732T>A (p.Asp244Glu) rs2146780434
NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del) rs1398952170
NM_000484.4(APP):c.751G>A (p.Gly251Ser) rs2044360130
NM_000484.4(APP):c.781C>T (p.Pro261Ser)
NM_000484.4(APP):c.803G>A (p.Arg268Lys) rs1601237753
NM_000484.4(APP):c.809C>T (p.Thr270Ile)
NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del) rs527890624
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup) rs527890624
NM_000484.4(APP):c.825C>T (p.Thr275=)
NM_000484.4(APP):c.828C>A (p.Thr276=)
NM_000484.4(APP):c.843G>A (p.Glu281=)
NM_000484.4(APP):c.865+11A>G
NM_000484.4(APP):c.865+3A>G rs2146779425
NM_000484.4(APP):c.866-16C>A
NM_000484.4(APP):c.866-3T>C rs2043232394
NM_000484.4(APP):c.879A>G (p.Glu293=)
NM_000484.4(APP):c.881A>G (p.Gln294Arg) rs1371336849
NM_000484.4(APP):c.891G>A (p.Thr297=) rs773857944
NM_000484.4(APP):c.901C>G (p.Arg301Gly)
NM_000484.4(APP):c.963C>T (p.Tyr321=)
NM_000484.4(APP):c.966C>G (p.Gly322=) rs200016837
NM_000484.4(APP):c.976G>A (p.Gly326Ser)
NM_000603.5(NOS3):c.1052C>T (p.Ala351Val) rs1795021746
NM_000603.5(NOS3):c.2356G>A (p.Gly786Arg)
NM_001080534.3(UNC13C):c.1326GAA[1] (p.Lys443del) rs746069739
NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) rs1561905293
NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) rs1561901881
NM_001377265.1(MAPT):c.2260C>T (p.His754Tyr) rs1568339995
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_003985.6(TNK1):c.393C>G (p.His131Gln) rs767381816
NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp) rs752156828
NM_007126.5(VCP):c.409C>T (p.Pro137Ser) rs866101707
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) rs547447016
NM_020821.3(VPS13C):c.1988del (p.Thr663fs) rs1019238429
NM_052918.5(SORCS1):c.3371+167C>T rs1844748933
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu) rs140152371
Single allele
m.3397A>G rs199476120

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