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: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.050 1.000 5 2004 2020
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2004 2013
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2017
dbSNP: rs1040288
rs1040288
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1075650
rs1075650
1 9 129176634 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs1212415280
rs1212415280
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs1333045
rs1333045
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1409568
rs1409568
2 1.000 0.040 10 118871273 intron variant T/C snv 8.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs1611131
rs1611131
3 0.925 0.080 9 133657065 splice region variant A/G snv 0.28; 4.0E-06 0.25 0.010 1.000 1 2018 2018
dbSNP: rs16918875
rs16918875
1 8 53229594 synonymous variant G/A snv 4.3E-02 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17664708
rs17664708
2 1.000 0.080 8 32579499 intron variant C/T snv 1.0E-01 0.010 1.000 1 2012 2012
dbSNP: rs1803274
rs1803274
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 1 2019 2019