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: rs12065526
rs12065526
1 1.000 1 247451105 missense variant G/A snv 0.13 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs2853694
rs2853694
2 0.925 0.040 5 159322080 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2009 2009
dbSNP: rs3922
rs3922
2 0.925 0.080 11 118894891 3 prime UTR variant A/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs4925663
rs4925663
2 0.925 0.040 1 247451315 missense variant C/T snv 0.41 0.35 0.010 1.000 1 2009 2009