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: rs121913631
rs121913631
3 0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05 0.720 1.000 13 1992 2017