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: rs121913407
rs121913407
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.010 < 0.001 1 2019 2019