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: rs2303861
rs2303861
1 1.000 0.040 11 44618466 intron variant A/G snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs236918
rs236918
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2638360
rs2638360
3 0.925 0.080 3 148710569 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs2980888
rs2980888
2 1.000 0.040 8 125495066 intron variant T/C snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs3834458
rs3834458
7 0.807 0.200 11 61827449 intron variant T/- del 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs497408
rs497408
1 1.000 0.040 6 23993395 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 1.000 1 2019 2019
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2019 2019
dbSNP: rs5748926
rs5748926
1 1.000 0.040 22 17168884 upstream gene variant T/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs5854292
rs5854292
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs62141163
rs62141163
2 1.000 0.040 2 31440248 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs6499186
rs6499186
1 1.000 0.040 16 68626662 downstream gene variant C/T snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs698718
rs698718
1 1.000 0.040 16 68526282 upstream gene variant A/C;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs71413689
rs71413689
1 1.000 0.040 2 150398953 intergenic variant G/A snv 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs72943235
rs72943235
1 1.000 0.040 2 88201127 intergenic variant G/A snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs753885266
rs753885266
1 1.000 0.040 6 73621899 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs762049291
rs762049291
1 1.000 0.040 3 46358410 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7674434
rs7674434
KLB
2 0.925 0.120 4 39417789 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs9273349
rs9273349
6 0.827 0.200 6 32658092 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.020 1.000 2 2018 2019