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: rs10001410
rs10001410
1 1.000 0.040 4 61608511 intron variant C/A snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1049522
rs1049522
1 1.000 0.040 5 36686784 3 prime UTR variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1057517991
rs1057517991
2 0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs10891819
rs10891819
1 1.000 0.040 11 115266527 intron variant T/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11122330
rs11122330
1 1.000 0.040 1 231762845 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs113828117
rs113828117
1 1.000 0.040 4 9783008 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11542313
rs11542313
1 1.000 0.040 2 170822115 synonymous variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs11564750
rs11564750
1 1.000 0.040 5 1447647 upstream gene variant G/C;T snv 6.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs1170695
rs1170695
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs121912777
rs121912777
5 0.851 0.080 16 55823661 missense variant C/A;G;T snv 4.8E-05; 1.2E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918695
rs121918695
3 0.882 0.080 3 24127696 missense variant C/T snv 4.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs1229761
rs1229761
1 1.000 0.040 7 114583668 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12376789
rs12376789
1 1.000 0.040 9 116620855 intron variant C/G snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs12533005
rs12533005
2 0.925 0.120 7 114416000 intron variant G/C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs12536620
rs12536620
1 1.000 0.040 7 106904783 intron variant A/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs12667819
rs12667819
1 1.000 0.040 7 106906212 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs129882
rs129882
3 0.882 0.200 9 133658547 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs13212041
rs13212041
6 0.851 0.200 6 77461407 downstream gene variant C/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs13280604
rs13280604
7 0.851 0.160 8 42704443 5 prime UTR variant G/A snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs1329650
rs1329650
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012