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: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs2228612
rs2228612
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2288349
rs2288349
5 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 0.010 1.000 1 2015 2015