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: rs10462706
rs10462706
2 0.923 0.107 5 1343679 intron variant C/T snp 0.15 0.700 1 2016 2016
dbSNP: rs10851478
rs10851478
2 0.923 0.107 15 49536822 intron variant T/C snp 0.31 0.700 1 2016 2016
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.700 1 2016 2016
dbSNP: rs1453414
rs1453414
3 0.878 0.143 11 5807854 intron variant G/C,T snp 0.11; 0.76 0.700 1 2016 2016
dbSNP: rs1800628
rs1800628
2 0.923 0.107 6 31579073 intergenic variant G/A snp 8.0E-02 0.700 1 2016 2016
dbSNP: rs2398180
rs2398180
2 0.923 0.107 15 96319940 intron variant C/T snp 0.63 0.700 1 2016 2016
dbSNP: rs3129780
rs3129780
2 0.923 0.107 6 32679924 intergenic variant T/A,C snp 0.66 0.700 1 2016 2016
dbSNP: rs3828805
rs3828805
4 0.846 0.143 6 32668343 5 prime UTR variant T/A,C snp 0.700 1 2016 2016
dbSNP: rs6547741
rs6547741
2 0.923 0.107 2 27633057 intron variant G/A snp 0.53 0.700 1 2016 2016
dbSNP: rs77452476
rs77452476
3 0.878 0.143 9 131087186 intron variant T/G snp 0.19 0.700 1 2016 2016
dbSNP: rs79767424
rs79767424
3 0.878 0.143 5 19108581 intron variant G/T snp 3.9E-02 0.700 1 2016 2016
dbSNP: rs8181047
rs8181047
3 0.878 0.143 9 22064466 intron variant A/G snp 0.77 0.700 1 2016 2016
dbSNP: rs928674
rs928674
2 0.923 0.107 9 131076637 intron variant A/G snp 0.16 0.700 1 2016 2016
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.040 0.500 4 2013 2016
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2004 2013
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.030 0.333 3 2014 2014
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 0.500 2 2011 2014
dbSNP: rs1047781
rs1047781
10 0.769 0.179 19 48703374 missense variant A/T snp 3.6E-02 2.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1047840
rs1047840
6 0.801 0.107 1 241878999 missense variant G/A snp 0.36 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1048638
rs1048638
CA9
4 0.923 0.071 9 35681125 3 prime UTR variant C/A,G snp 0.20; 3.2E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1057035
rs1057035
4 0.846 0.179 14 95087805 3 prime UTR variant T/C snp 0.26 0.010 1.000 1 2013 2013
dbSNP: rs10889677
rs10889677
21 0.667 0.500 1 67259437 3 prime UTR variant C/A snp 0.28 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598
3 0.878 0.071 1 204556440 3 prime UTR variant G/T snp 0.39 0.010 1.000 1 2012 2012