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: rs397514461
rs397514461
5 0.827 0.200 Y 640842 missense variant G/C snv 0.010 1.000 1 2012 2012