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: rs1278352
rs1278352
1 1.000 0.040 10 126084807 intron variant A/G snv 0.61 0.700 1.000 2 2016 2016
dbSNP: rs12861247
rs12861247
STS
2 1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02 0.020 1.000 2 2008 2011
dbSNP: rs1412005
rs1412005
3 0.925 0.040 9 90646879 upstream gene variant T/A;G snv 0.020 1.000 2 2011 2016
dbSNP: rs145108385
rs145108385
2 0.925 0.040 5 43054645 intron variant A/G snv 0.700 1.000 2 2018 2019
dbSNP: rs1566652
rs1566652
1 1.000 0.040 16 55697663 intron variant G/T snv 0.29 0.020 1.000 2 2015 2019
dbSNP: rs17268988
rs17268988
STS
2 1.000 0.040 X 7336440 intron variant C/G snv 0.22 0.020 1.000 2 2011 2017
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2010 2014
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.020 1.000 2 2011 2013
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2017
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 1.000 2 2008 2010
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2017 2018
dbSNP: rs1880867
rs1880867
1 1.000 0.040 12 79203668 intron variant G/T snv 0.70 0.020 1.000 2 2017 2018
dbSNP: rs201431517
rs201431517
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs2228607
rs2228607
2 0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53 0.020 1.000 2 2017 2018
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2014 2017
dbSNP: rs2391769
rs2391769
3 0.925 0.040 1 96513405 regulatory region variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs2519152
rs2519152
DBH
2 1.000 0.040 9 133644512 intron variant T/C snv 0.40 0.020 1.000 2 2006 2010
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.810 1.000 2 2013 2015
dbSNP: rs2652511
rs2652511
2 0.925 0.040 5 1446274 upstream gene variant A/G snv 0.51 0.020 1.000 2 2009 2014
dbSNP: rs27048
rs27048
2 1.000 0.040 5 1412530 intron variant C/A;G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs28386840
rs28386840
6 0.827 0.080 16 55652906 upstream gene variant T/A;C snv 0.020 1.000 2 2012 2018
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 0.500 2 2014 2015
dbSNP: rs36011
rs36011
1 1.000 0.040 16 55697132 intron variant G/A snv 3.6E-02 0.020 1.000 2 2015 2019
dbSNP: rs3792452
rs3792452
2 0.925 0.040 3 7625097 intron variant C/T snv 0.15 0.020 1.000 2 2013 2014