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: rs1470247194
rs1470247194
2 0.925 0.120 7 142052790 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs540161721
rs540161721
2 0.925 0.120 7 142021035 synonymous variant T/C snv 7.6E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs782738646
rs782738646
3 0.882 0.120 7 142034817 missense variant G/T snv 1.2E-05 0.010 1.000 1 1993 1993