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: rs12870438
rs12870438
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2012 2013
dbSNP: rs7174015
rs7174015
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs10129954
rs10129954
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs10269148
rs10269148
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1059060
rs1059060
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs11677854
rs11677854
1 1.000 0.040 2 48664148 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs12097821
rs12097821
4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12348
rs12348
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs1248142939
rs1248142939
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2207396
rs2207396
2 0.925 0.120 6 152061247 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs4474514
rs4474514
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs4647269
rs4647269
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs553509
rs553509
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs55763075
rs55763075
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs6080550
rs6080550
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs68073206
rs68073206
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs724078
rs724078
3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs786203623
rs786203623
2 0.925 0.040 3 37017520 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs7867029
rs7867029
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs864622096
rs864622096
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs9340958
rs9340958
1 1.000 0.040 6 152009538 intron variant C/T snv 8.5E-02 0.010 1.000 1 2011 2011