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: rs6659932
rs6659932
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs3130614
rs3130614
1 1.000 0.080 6 31508681 intron variant T/A snv 7.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs114771815
rs114771815
1 1.000 0.080 6 31484059 intron variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs116662199
rs116662199
1 1.000 0.080 6 31481199 non coding transcript exon variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs17849502
rs17849502
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs76246107
rs76246107
4 0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs13389408
rs13389408
4 0.851 0.160 2 191068557 3 prime UTR variant T/C snv 7.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs104895223
rs104895223
4 0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs2422345
rs2422345
4 0.851 0.160 1 173368608 upstream gene variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs4958880
rs4958880
4 0.851 0.160 5 151058916 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs5754467
rs5754467
4 0.851 0.160 22 21630805 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2019