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: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs929783669
rs929783669
1 1.000 0.080 19 1220674 missense variant T/C snv 0.700 0
dbSNP: rs2116260
rs2116260
1 1.000 0.080 6 33057663 TF binding site variant T/C snv 8.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs213210
rs213210
11 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs3117008
rs3117008
1 1.000 0.080 6 33128497 intron variant G/A snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs3117039
rs3117039
2 0.925 0.160 6 33118074 intron variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs3129275
rs3129275
1 1.000 0.080 6 33126481 intron variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs4713607
rs4713607
1 1.000 0.080 6 33123059 intron variant G/A snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs7770370
rs7770370
2 0.925 0.160 6 33081144 non coding transcript exon variant A/G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs9391756
rs9391756
1 1.000 0.080 6 33148017 upstream gene variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs997363
rs997363
2 0.925 0.080 2 227644742 intron variant C/T snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs1003897973
rs1003897973
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs1007541
rs1007541
4 0.882 0.080 2 48981895 intron variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1030389
rs1030389
3 0.882 0.080 15 25032641 non coding transcript exon variant A/G snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2009 2009
dbSNP: rs10426502
rs10426502
3 0.882 0.080 19 4651257 intron variant G/A snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042725
rs1042725
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1045935
rs1045935
3 0.882 0.080 15 25036439 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1048512
rs1048512
3 0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1059234
rs1059234
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1060555
rs1060555
3 0.882 0.080 19 4652810 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019