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: rs167769
rs167769
5 0.827 0.280 12 57109992 5 prime UTR variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs3024975
rs3024975
1 1.000 0.080 12 57098080 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs703817
rs703817
2 0.925 0.120 12 57096045 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2011 2011