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: rs118203945
rs118203945
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs397514669
rs397514669
3 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013