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: rs12137901
rs12137901
3 0.882 0.200 1 247417907 intron variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3806268
rs3806268
2 0.925 0.200 1 247424175 synonymous variant G/A;T snv 0.50; 4.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs7512998
rs7512998
3 0.882 0.200 1 247419919 intron variant C/T snv 0.83 0.010 1.000 1 2015 2015