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: rs187831231
rs187831231
1 12 124814309 missense variant T/C snv 1.1E-04 2.0E-04 0.700 0
dbSNP: rs387906791
rs387906791
1 12 124807881 missense variant G/A snv 8.0E-06 6.3E-05 0.700 0
dbSNP: rs397514572
rs397514572
1 12 124815064 missense variant G/A snv 0.700 0
dbSNP: rs74830677
rs74830677
6 0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04 0.700 0