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: rs121918382
rs121918382
3 0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs5128
rs5128
8 0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87 0.010 1.000 1 2014 2014