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
|
|