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: rs1553293095
rs1553293095
1 1.000 1 247444061 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs28937896
rs28937896
6 0.807 0.120 1 247424507 missense variant T/C snv 0.700 0