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: rs3764650
rs3764650
2 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.900 1.000 1 2011 2019
dbSNP: rs4147929
rs4147929
1 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 1 2013 2019
dbSNP: rs3752246
rs3752246
1 1.000 0.080 19 1056493 missense variant G/C;T snv 0.84; 4.1E-06 0.850 0.833 1 2011 2019
dbSNP: rs115550680
rs115550680
1 1.000 0.080 19 1050421 intron variant A/G snv 1.7E-02 0.830 0.667 1 2013 2019