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: 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: rs6871510
rs6871510
1 1.000 0.080 5 79496521 intron variant C/T snv 0.22 0.010 1.000 1 2005 2005
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.020 1.000 2 2008 2010
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: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2008 2008
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2008 2008
dbSNP: rs6454674
rs6454674
5 0.851 0.120 6 88163211 intron variant T/G snv 0.32 0.020 1.000 2 2009 2013
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2009 2009
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: rs6719226
rs6719226
1 1.000 0.080 2 25173143 upstream gene variant C/G snv 0.13 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: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.010 1.000 1 2010 2010
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 2010 2010
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs684513
rs684513
5 0.925 0.080 15 78566058 intron variant C/G;T snv 0.010 1.000 1 2010 2010
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: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2012 2012
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
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: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs6989250
rs6989250
1 1.000 0.080 8 53253835 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
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: rs111325002
rs111325002
2 1.000 0.080 3 96134788 intergenic variant A/G snv 8.6E-03 0.800 1.000 1 2014 2014
dbSNP: rs12071360
rs12071360
1 1.000 0.080 1 233608833 intergenic variant T/C snv 0.10 0.700 1.000 1 2014 2014