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: rs121917814
rs121917814
2 0.925 0.160 5 34007866 missense variant A/G snv 3.4E-04 4.8E-04 0.800 1.000 2 2000 2003
dbSNP: rs121917816
rs121917816
1 1.000 0.120 5 34005827 missense variant A/G snv 4.0E-06 0.800 1.000 2 2000 2003