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: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17518584
rs17518584
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs3764435
rs3764435
5 0.827 0.120 9 72901960 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 < 0.001 1 2019 2019
dbSNP: rs63750083
rs63750083
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9357347
rs9357347
4 0.851 0.080 6 41182853 intergenic variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs763841075
rs763841075
GRN
4 0.851 0.120 17 44350293 missense variant T/C snv 1.8E-04 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs767425642
rs767425642
ACE
3 0.882 0.120 17 63489010 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs9331896
rs9331896
4 0.851 0.080 8 27610169 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs950530102
rs950530102
DST
3 0.882 0.160 6 56704357 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017