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: rs7528604
rs7528604
3 0.925 0.040 1 65941669 intron variant G/A snv 0.42 0.710 1.000 1 2019 2019
dbSNP: rs1709393
rs1709393
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 2 2016 2019
dbSNP: rs10893268
rs10893268
1 11 124568716 intron variant C/T snv 0.40 0.700 1.000 1 2014 2014
dbSNP: rs11059336
rs11059336
1 12 127745489 regulatory region variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs113209956
rs113209956
1 9 25211195 intergenic variant C/T snv 5.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs11855560
rs11855560
1 15 40732105 3 prime UTR variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs1192553
rs1192553
1 1 17967858 intergenic variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs1458103
rs1458103
1 11 81336231 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs16916239
rs16916239
1 8 86631513 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2451828
rs2451828
1 5 7448683 intron variant C/T snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs342422
rs342422
1 5 84175168 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs34516333
rs34516333
1 16 73114768 intron variant G/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs4692589
rs4692589
1 4 170014094 intron variant A/G snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs4951043
rs4951043
1 1 204105737 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs6030245
rs6030245
1 20 42441919 intron variant T/C snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs6462203
rs6462203
1 7 3636370 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs72711240
rs72711240
1 4 134774652 intron variant C/T snv 2.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs79928194
rs79928194
1 2 232784580 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs9875578
rs9875578
1 3 13752941 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs202085145
rs202085145
6 1.000 0.080 12 56002720 missense variant G/T snv 1.0E-03 5.6E-04 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 34 2005 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 30 2005 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.931 29 2004 2019
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.070 1.000 7 2011 2017
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.050 1.000 5 2008 2016