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: rs374039502
rs374039502
4 0.925 0.160 13 108308037 3 prime UTR variant T/A snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs606552
rs606552
1 3 124722654 3 prime UTR variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
4 1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs151234
rs151234
2 1.000 0.120 16 28494339 5 prime UTR variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs56337033
rs56337033
1 17 4932332 5 prime UTR variant C/T snv 2.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs150813342
rs150813342
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs181853315
rs181853315
1 20 19935125 synonymous variant C/T snv 6.7E-03 6.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs553749201
rs553749201
3 17 4933900 synonymous variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs11559982
rs11559982
2 12 54317790 non coding transcript exon variant A/G snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs17572109
rs17572109
3 2 218229211 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2278613
rs2278613
1 15 56887102 non coding transcript exon variant A/G snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs59508494
rs59508494
2 19 16100820 non coding transcript exon variant A/G snv 5.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs6961102
rs6961102
1 7 129609932 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs139473150
rs139473150
1 20 59024287 missense variant C/T snv 6.0E-05 1.6E-04 0.700 1.000 1 2016 2016
dbSNP: rs1613662
rs1613662
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.700 1.000 1 2016 2016
dbSNP: rs34834842
rs34834842
1 22 37932590 missense variant A/G;T snv 2.1E-02 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs41303899
rs41303899
3 20 59023753 missense variant G/A snv 8.7E-04 9.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs61751937
rs61751937
2 9 110549951 missense variant G/C;T snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs8073060
rs8073060
3 17 35548243 missense variant T/A snv 0.32 0.34 0.700 1.000 1 2016 2016
dbSNP: rs135009
rs135009
1 22 43099733 regulatory region variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs142680548
rs142680548
1 20 59063624 regulatory region variant C/T snv 5.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs2043671
rs2043671
1 20 59291787 regulatory region variant C/T snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs2546986
rs2546986
1 5 160158573 regulatory region variant G/A;T snv 0.700 1.000 1 2016 2016