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: rs202247812
rs202247812
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012