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: rs6571943
rs6571943
1 14 39556042 intron variant C/T snv 0.77 0.700 1.000 1 2017 2017
dbSNP: rs4776997
rs4776997
1 15 67858585 intron variant A/G;T snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs16873450
rs16873450
1 7 23767021 intron variant A/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs2976464
rs2976464
2 1.000 0.040 8 144902955 upstream gene variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs6479525
rs6479525
2 1.000 0.080 9 90331096 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1449587
rs1449587
1 13 48839332 regulatory region variant C/T snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs8067235
rs8067235
1 17 81050837 intron variant G/A snv 0.30 0.800 1.000 1 2014 2014
dbSNP: rs157582
rs157582
8 0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 0.700 1.000 1 2017 2017
dbSNP: rs8073765
rs8073765
1 17 13726414 regulatory region variant T/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs56214552
rs56214552
2 1.000 0.080 8 93011994 intron variant T/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs9528384
rs9528384
1 13 61728432 regulatory region variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs4762194
rs4762194
1 12 97789941 intergenic variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12990252
rs12990252
1 2 35861457 intergenic variant G/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11237982
rs11237982
2 1.000 0.080 11 79730650 intergenic variant T/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs6813517
rs6813517
1 4 167601600 intergenic variant T/C snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs11074779
rs11074779
1 16 26440122 intergenic variant T/C snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs6020395
rs6020395
1 20 37710922 intron variant G/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2018 2018
dbSNP: rs5747035
rs5747035
1 22 17237716 intron variant T/C snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs3801203
rs3801203
1 7 42148801 intron variant C/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs6857
rs6857
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs6020712
rs6020712
4 1.000 0.080 20 37758210 intron variant G/A snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs12436690
rs12436690
1 14 97119552 intron variant G/A snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs12295181
rs12295181
1 11 5270506 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018