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: rs121912510
rs121912510
2 0.925 0.120 7 150948995 missense variant G/A snv 4.0E-06 0.700 1.000 4 1999 2013