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: 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: rs932350
rs932350
1 1 4793628 downstream gene variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs140454225
rs140454225
1 16 1003856 upstream gene variant T/C;G snv 0.700 1.000 1 2018 2018
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: rs6012770
rs6012770
1 20 37675713 upstream gene variant G/A snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs6020113
rs6020113
1 20 37674643 upstream gene variant G/A snv 9.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs62187521
rs62187521
2 1.000 0.080 20 959154 3 prime UTR variant C/T snv 4.8E-03 0.700 1.000 1 2018 2018
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: rs61751117
rs61751117
1 15 65741731 synonymous variant A/C snv 2.6E-02 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs769449
rs769449
11 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.700 1.000 1 2017 2017
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: rs9004
rs9004
1 8 144842937 stop gained C/G;T snv 1.6E-05; 0.31 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: rs56186534
rs56186534
1 12 104410836 regulatory region variant G/C snv 5.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs8073765
rs8073765
1 17 13726414 regulatory region variant T/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs9528384
rs9528384
1 13 61728432 regulatory region variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs10058621
rs10058621
1 5 51259335 intergenic variant T/C snv 6.0E-02 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: rs11237982
rs11237982
2 1.000 0.080 11 79730650 intergenic variant T/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11775026
rs11775026
1 8 73264813 intergenic variant T/C snv 5.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12990252
rs12990252
1 2 35861457 intergenic variant G/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13166268
rs13166268
1 5 121024223 intergenic variant C/G snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs13360092
rs13360092
1 5 51233341 intergenic variant G/A snv 6.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs145471199
rs145471199
1 7 9407441 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs147906088
rs147906088
2 1.000 0.080 7 54496119 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018