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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.923 13 2002 2018
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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.090 1.000 9 2012 2018
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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2005 2019
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: rs11079454
rs11079454
3 0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv 0.020 0.500 2 2013 2016
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