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: rs8089099
rs8089099
3 18 10078074 regulatory region variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs11191841
rs11191841
3 10 103879853 3 prime UTR variant T/C snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs6533183
rs6533183
3 4 105212027 intron variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs11722225
rs11722225
5 4 105845273 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs78442819
rs78442819
2 1.000 0.040 16 10647125 intron variant G/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs6032942
rs6032942
2 20 10764897 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2798641
rs2798641
5 6 108946847 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs9970286
rs9970286
2 1 111194776 intron variant G/A;T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs2701110
rs2701110
3 12 114232065 intergenic variant C/A snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs10983184
rs10983184
2 9 116471779 intron variant C/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs35043843
rs35043843
3 1 118368672 intergenic variant T/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs7090277
rs7090277
3 10 12236022 intron variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs541601
rs541601
2 11 126139605 TF binding site variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1102077
rs1102077
3 6 139950220 intron variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs9385988
rs9385988
3 6 142239820 intergenic variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs17280293
rs17280293
2 6 142367832 missense variant A/G snv 3.0E-02 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs7753012
rs7753012
5 6 142424746 intron variant T/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs13109426
rs13109426
3 4 144409476 intron variant G/A snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs13116999
rs13116999
4 4 144521212 intron variant G/A snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs13141641
rs13141641
8 1.000 0.040 4 144585304 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs2353940
rs2353940
3 4 144819746 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs7733410
rs7733410
2 5 148476959 intron variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.700 1.000 1 2019 2019