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: rs281860639
rs281860639
2 1.000 0.080 X 53199048 stop gained G/T snv 0.010 1.000 1 2011 2011