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: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.040 1.000 4 2007 2018
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.030 0.667 3 2007 2013
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
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: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.030 1.000 3 2007 2014
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 0.667 3 2010 2017
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: rs11191454
rs11191454
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.810 1.000 2 2013 2015
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: 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: 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: 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