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: rs12564480
rs12564480
1 1.000 0.040 1 241666284 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1841915
rs1841915
1 1.000 0.040 3 21573947 intron variant G/C snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs242999
rs242999
1 1.000 0.040 22 34109914 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs7665833
rs7665833
1 1.000 0.040 4 130459962 intergenic variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs7735612
rs7735612
1 1.000 0.040 5 169082727 intron variant T/C snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2013 2019
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1387923
rs1387923
3 0.882 0.040 9 85025721 3 prime UTR variant A/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs1516340
rs1516340
1 1.000 0.040 3 195392 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1565445
rs1565445
3 0.882 0.040 9 85002156 intron variant G/A snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs1805502
rs1805502
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2133402
rs2133402
1 1.000 0.040 3 214575 intron variant T/G snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2254137
rs2254137
2 0.925 0.040 2 207579304 intron variant C/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs2769605
rs2769605
5 0.827 0.040 9 85297756 intergenic variant C/T snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs3817629
rs3817629
1 1.000 0.040 11 237312 intron variant T/C snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs7603001
rs7603001
2 0.925 0.040 2 184902089 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2008 2008