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: rs111033631
rs111033631
2 0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06 0.010 1.000 1 2001 2001