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: rs1063539
rs1063539
5 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 0.010 < 0.001 1 2020 2020
dbSNP: rs11545078
rs11545078
GGH
6 0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs12342
rs12342
4 0.851 0.240 12 1787714 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs1348254052
rs1348254052
1 1.000 0.120 9 127807038 missense variant T/C snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1544105
rs1544105
4 0.851 0.200 9 127800446 intron variant C/T snv 0.48 0.010 1.000 1 2020 2020
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs2082940
rs2082940
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2020 2020
dbSNP: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2020 2020
dbSNP: rs7539542
rs7539542
9 0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58 0.010 < 0.001 1 2020 2020
dbSNP: rs1005133
rs1005133
1 1.000 0.120 22 19750832 intergenic variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10088748
rs10088748
1 1.000 0.120 8 14611016 intron variant C/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs10275421
rs10275421
1 1.000 0.120 7 101299780 non coding transcript exon variant G/A snv 7.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs10999147
rs10999147
1 1.000 0.120 10 70121102 missense variant A/G snv 8.6E-02 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs11137037
rs11137037
4 0.851 0.200 8 6538661 intron variant A/C snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs111703287
rs111703287
1 1.000 0.120 11 129982285 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs112112734
rs112112734
1 1.000 0.120 6 32486076 intergenic variant T/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs112844193
rs112844193
2 0.925 0.160 1 245175674 intron variant C/T snv 6.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs112846137
rs112846137
4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs112941217
rs112941217
2 0.925 0.160 1 156087626 intron variant T/C snv 2.7E-02 0.700 1.000 1 2019 2019