NM_000447.3(PSEN2):c.69T>C (p.Ala23=)
|
rs11405
|
0.77636
|
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_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_000447.3(PSEN2):c.-275C>T
|
rs1295645
|
0.15385
|
NM_000447.3(PSEN2):c.-43C>T
|
rs7961
|
0.08031
|
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_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_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_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_000447.3(PSEN2):c.132T>A (p.Thr44=)
|
rs143227762
|
0.00413
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=)
|
rs138494303
|
0.00248
|
NM_000447.3(PSEN2):c.*120G>A
|
rs143059995
|
0.00226
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
NM_000447.3(PSEN2):c.-82T>C
|
rs200607063
|
0.00144
|
NM_000447.3(PSEN2):c.366G>A (p.Thr122=)
|
rs148996705
|
0.00094
|
NM_000041.4(APOE):c.651C>T (p.Ala217=)
|
rs72654468
|
0.00090
|
NM_000447.3(PSEN2):c.*306G>A
|
rs145129440
|
0.00086
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)
|
rs146894466
|
0.00063
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_000447.3(PSEN2):c.-184C>T
|
rs149590162
|
0.00048
|
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr)
|
rs138836272
|
0.00041
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
NM_000041.4(APOE):c.805C>G (p.Arg269Gly)
|
rs267606661
|
0.00032
|
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)
|
rs61757781
|
0.00031
|
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)
|
rs150400387
|
0.00029
|
NM_000447.3(PSEN2):c.753C>T (p.Ser251=)
|
rs200332829
|
0.00026
|
NM_000041.4(APOE):c.69G>A (p.Ala23=)
|
rs111833428
|
0.00024
|
NM_000447.3(PSEN2):c.954C>T (p.Pro318=)
|
rs199587016
|
0.00022
|
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser)
|
rs200636353
|
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_000447.3(PSEN2):c.66G>A (p.Ser22=)
|
rs367645069
|
0.00017
|
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)
|
rs148238688
|
0.00014
|
NM_000447.3(PSEN2):c.886+16G>A
|
rs202005802
|
0.00014
|
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_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_000447.3(PSEN2):c.*377C>T
|
rs202160009
|
0.00010
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
NM_000447.3(PSEN2):c.*20G>A
|
rs201399057
|
0.00009
|
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_000447.3(PSEN2):c.*132T>C
|
rs186288674
|
0.00005
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
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_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_000041.4(APOE):c.688G>A (p.Glu230Lys)
|
rs567353589
|
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_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
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
|
NC_000001.11:g.(?_226881888)_(226895599_?)del
|
|
|
NM_000021.4(PSEN1):c.869-1624_956-2452del
|
|
|
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)
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NM_000447.3(PSEN2):c.843C>T (p.Ala281=)
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rs2102686884
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NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly)
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rs1208742830
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NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)
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NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
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NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
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NM_000447.3(PSEN2):c.886+15C>T
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NM_000447.3(PSEN2):c.886+2_886+4del
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rs1553268799
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NM_000447.3(PSEN2):c.887-24T>C
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rs2802267
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NM_000447.3(PSEN2):c.887-4C>G
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NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
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NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser)
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rs756225509
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NM_000447.3(PSEN2):c.970+3_970+6del
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rs775692311
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NM_000447.3(PSEN2):c.971-18C>T
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NM_000447.3(PSEN2):c.971-9G>C
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rs2102690274
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