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: rs1012176
rs1012176
1 5 11320426 intron variant G/T snv 0.24 0.010 1.000 1 2014 2014
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: rs1181732881
rs1181732881
1 17 49969496 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
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: rs1208512188
rs1208512188
1 8 38030595 missense variant A/G snv 9.2E-06 0.010 1.000 1 2013 2013
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: rs3828942
rs3828942
LEP
1 7 128254252 intron variant G/A snv 0.37 0.010 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: rs1709393
rs1709393
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 2 2016 2019
dbSNP: rs11030107
rs11030107
2 1.000 0.040 11 27673288 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015