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: rs397507476
rs397507476
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs180177042
rs180177042
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.010 1.000 1 2019 2019