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: rs121918363
rs121918363
2 0.925 0.200 X 100667292 missense variant A/G snv 5.7E-04 4.1E-04 0.010 1.000 1 2019 2019