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: rs2629540
rs2629540
4 0.925 0.080 10 124737579 intron variant G/C snv 0.18 0.810 1.000 2 2014 2018
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2008 2008
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs12071360
rs12071360
1 1.000 0.080 1 233608833 intergenic variant T/C snv 0.10 0.700 1.000 1 2014 2014
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs5374
rs5374
1 1.000 0.080 18 77250689 synonymous variant T/C snv 0.57 0.57 0.010 1.000 1 2014 2014
dbSNP: rs6561333
rs6561333
1 1.000 0.080 13 46846177 intron variant T/C snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs6713532
rs6713532
1 1.000 0.080 2 25161964 intron variant T/C snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs6454674
rs6454674
5 0.851 0.120 6 88163211 intron variant T/G snv 0.32 0.020 1.000 2 2009 2013