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: rs121913484
rs121913484
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2014 2014