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: rs11543848
rs11543848
7 0.790 0.240 7 55161562 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs712829
rs712829
8 0.776 0.120 7 55019062 5 prime UTR variant G/C;T snv 0.010 1.000 1 2019 2019