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: rs12916
rs12916
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.010 1.000 1 2018 2018