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: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1018379423
rs1018379423
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs10254120
rs10254120
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2008 2016
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
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: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs104893859
rs104893859
3 0.925 0.080 4 110618669 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.040 1.000 4 2011 2015
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 1.000 2 2003 2008
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1051992
rs1051992
1 11 6319476 missense variant A/G snv 4.2E-06; 0.55 0.51 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 1.000 4 2005 2019
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 0.667 3 2012 2016
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 0.667 3 2012 2016
dbSNP: rs1057519853
rs1057519853
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.010 < 0.001 1 2018 2018
dbSNP: rs1057519865
rs1057519865
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519874
rs1057519874
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.020 1.000 2 2016 2019
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519912
rs1057519912
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.020 0.500 2 2013 2016
dbSNP: rs1057519921
rs1057519921
10 0.763 0.240 2 177234231 missense variant T/C snv 0.010 1.000 1 2011 2011