Source: ALL
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: rs7495694
rs7495694
2 1.000 0.040 15 72833651 regulatory region variant A/G snv 0.96 0.700 1.000 1 2015 2015
dbSNP: rs7461897
rs7461897
2 1.000 0.040 8 27037027 intergenic variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2016 2016
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2013 2013
dbSNP: rs970510
rs970510
2 1.000 0.040 18 71812685 intergenic variant T/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs6732655
rs6732655
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs2298771
rs2298771
3 0.925 0.040 2 166036278 missense variant C/T snv 0.73 0.74 0.020 1.000 2 2009 2017
dbSNP: rs776746
rs776746
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs2717068
rs2717068
1 1.000 0.040 2 57867738 intergenic variant A/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs2278637
rs2278637
1 1.000 0.040 17 8158784 intron variant G/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs6949448
rs6949448
1 1.000 0.040 7 87512498 intron variant T/C snv 0.63 0.010 < 0.001 1 2011 2011
dbSNP: rs2279020
rs2279020
2 1.000 0.040 5 161895883 non coding transcript exon variant G/A snv 0.62 0.63 0.030 1.000 3 2010 2016
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2009 2011
dbSNP: rs535066
rs535066
1 1.000 0.040 4 46238270 intergenic variant G/T snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs4817027
rs4817027
2 0.925 0.040 21 25566677 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2012 2012
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2017 2018
dbSNP: rs61670327
rs61670327
1 1.000 0.040 5 3276582 regulatory region variant G/A snv 0.55 0.700 1.000 1 2014 2014
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1109771
rs1109771
1 1.000 0.040 6 32219828 intron variant A/G snv 0.57 0.54 0.010 1.000 1 2017 2017
dbSNP: rs9833158
rs9833158
1 1.000 0.040 3 16742882 intergenic variant G/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs7178130
rs7178130
2 0.925 0.120 15 72685861 5 prime UTR variant G/A snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs3761847
rs3761847
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019