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: 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: rs1057519911
rs1057519911
10 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2016 2016
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
dbSNP: rs10802996
rs10802996
5 0.882 0.080 1 241847325 upstream gene variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10815144
rs10815144
3 0.882 0.080 9 5010192 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10893506
rs10893506
5 0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41 0.010 1.000 1 2014 2014
dbSNP: rs11064
rs11064
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1110839
rs1110839
6 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11125
rs11125
5 0.851 0.120 14 55145121 missense variant A/T snv 6.5E-02 5.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11202058
rs11202058
3 0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1126497
rs1126497
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2010 2010