Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11257242
rs11257242
LOC105376412 ; LOC105376413
1 1.000 0.080 10 11679120 upstream gene variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1126680
rs1126680
BCHE
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs113145702
rs113145702
APP
1 1.000 0.080 21 25955632 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs113260531
rs113260531
SCIMP ; LOC100130950
1 1.000 0.080 17 5235685 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs114036675
rs114036675
BCL3
1 1.000 0.080 19 44759439 missense variant G/A snv 2.4E-03 5.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs114360492
rs114360492
CNTNAP2
1 1.000 0.080 7 146252937 intron variant C/T snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1143704
rs1143704
CYP19A1 ; MIR4713HG
1 1.000 0.080 15 51218505 missense variant T/A snv 0.45 0.42 0.010 < 0.001 1 2019 2019
dbSNP: rs1160984
rs1160984
TOMM40
1 1.000 0.080 19 44900667 intron variant C/T snv 3.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11649476
rs11649476
VAC14
2 0.925 0.080 16 70702849 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs11665676
rs11665676
NECTIN2
1 1.000 0.080 19 44875462 intron variant C/T snv 4.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11672748
rs11672748
CLPTM1
1 1.000 0.080 19 44986934 non coding transcript exon variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs116949436
rs116949436
CLPTM1
1 1.000 0.080 19 44960129 intron variant G/A snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs117618017
rs117618017
APH1B
1 1.000 0.080 15 63277703 missense variant C/T snv 8.9E-02 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs11763230
rs11763230
EPHA1-AS1
1 1.000 0.080 7 143411748 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs117834366
rs117834366
CNTNAP2
2 0.925 0.120 7 147937799 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1200601649
rs1200601649
APP
2 0.925 0.080 21 26022022 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs12148780
rs12148780
ALDH1A2
2 1.000 0.080 15 58289090 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1220355764
rs1220355764
APP
2 0.925 0.080 21 26022037 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs123187
rs123187 		1 1.000 0.080 19 45327689 upstream gene variant G/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs12805422
rs12805422 		2 1.000 0.080 11 45818338 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs1287723181
rs1287723181
APP
2 1.000 0.080 21 25954680 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1315025573
rs1315025573
APP
2 0.925 0.080 21 25891849 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13500
rs13500
LIPA
1 1.000 0.080 10 89213735 3 prime UTR variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs138412600
rs138412600
GPAA1
1 1.000 0.080 8 144083160 synonymous variant G/A snv 1.1E-02 1.2E-02 0.010 1.000 1 2019 2019