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: 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: 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: rs13273442
rs13273442
4 0.882 0.080 8 42688874 intergenic variant A/G snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs1437134
rs1437134
1 1.000 0.080 16 69696523 3 prime UTR variant A/G snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1868152
rs1868152
2 0.925 0.080 3 186502274 intergenic variant A/G;T snv 0.85 0.010 1.000 1 2018 2018
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: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
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: rs2005290
rs2005290
2 1.000 0.080 17 3284718 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs684513
rs684513
5 0.925 0.080 15 78566058 intron variant C/G;T snv 0.010 1.000 1 2010 2010
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: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs149775276
rs149775276
2 0.925 0.080 8 42732292 missense variant C/T snv 3.6E-04 4.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs150954431
rs150954431
2 1.000 0.080 12 124517777 intron variant C/T snv 1.6E-02 0.800 1.000 1 2014 2014
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: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2013 2013
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: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2019 2019
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: rs2229163
rs2229163
1 1.000 0.080 11 46385307 synonymous variant G/A snv 1.0E-02 3.9E-02 0.010 1.000 1 2016 2016
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: 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: rs779838446
rs779838446
2 0.925 0.080 8 42756217 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014