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: rs121912775
rs121912775
1 1.000 0.080 12 2550020 missense variant G/A snv 6.7E-04 3.6E-04 0.700 1.000 1 2007 2007
dbSNP: rs121912776
rs121912776
1 1.000 0.080 12 2115290 missense variant C/T snv 0.700 1.000 1 2007 2007