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: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.030 1.000 3 2017 2019
dbSNP: rs3785143
rs3785143
2 1.000 0.040 16 55661194 intron variant C/T snv 8.6E-02 0.030 1.000 3 2008 2018
dbSNP: rs56135409
rs56135409
1 1.000 0.040 3 20683524 intron variant C/A snv 0.27 0.700 1.000 3 2018 2019
dbSNP: rs6551665
rs6551665
4 0.882 0.040 4 61873823 intron variant G/A snv 0.59 0.030 1.000 3 2015 2019
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.020 1.000 2 2005 2009
dbSNP: rs11568324
rs11568324
1 1.000 0.040 16 55692146 intron variant C/T snv 5.3E-03 0.020 1.000 2 2008 2008
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: rs1880867
rs1880867
1 1.000 0.040 12 79203668 intron variant G/T snv 0.70 0.020 1.000 2 2017 2018
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: 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
dbSNP: rs478597
rs478597
2 1.000 0.040 12 117313620 intron variant G/A snv 0.35 0.020 1.000 2 2016 2016
dbSNP: rs4916723
rs4916723
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs763131939
rs763131939
1 1.000 0.040 5 1394755 missense variant G/A snv 8.0E-06 2.8E-05 0.020 1.000 2 2012 2015
dbSNP: rs8039398
rs8039398
2 0.925 0.040 15 47438673 intron variant T/C snv 0.47 0.700 1.000 2 2018 2019
dbSNP: rs8636
rs8636
1 1.000 0.040 20 10307094 3 prime UTR variant T/A;C snv 0.020 1.000 2 2012 2017