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: rs121909567
rs121909567
2 0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2019 2019