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: rs1064793347
rs1064793347
3 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020