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: rs1126742
rs1126742
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs3890011
rs3890011
3 0.925 0.040 1 46933071 intron variant G/C snv 0.71 0.65 0.010 1.000 1 2017 2017