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: rs7791726
rs7791726
1 1.000 0.120 7 12243703 downstream gene variant G/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.030 1.000 3 2013 2017