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: rs1282596664
rs1282596664
2 1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs758130759
rs758130759
3 0.925 0.120 17 37699149 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs7501939
rs7501939
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010