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: rs4754
rs4754
12 0.752 0.360 4 87981540 missense variant T/A;C snv 0.32 0.010 1.000 1 2017 2017