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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.950 20 2005 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.750 8 2005 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.750 8 2005 2016
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: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.050 1.000 5 2005 2018
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: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.020 1.000 2 2005 2009
dbSNP: rs137853265
rs137853265
2 0.925 0.200 X 54467901 missense variant C/T snv 7.9E-06 9.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs2269272
rs2269272
1 1.000 0.040 5 36687754 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2005 2005
dbSNP: rs928079448
rs928079448
2 0.925 0.040 11 637406 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.080 1.000 8 2006 2013
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: rs498793
rs498793
3 1.000 0.040 11 61857233 intron variant T/C snv 0.62 0.010 1.000 1 2006 2006
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: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.030 1.000 3 2007 2014
dbSNP: rs7124601
rs7124601
1 1.000 0.040 11 639273 intron variant C/A;G snv 0.010 1.000 1 2007 2007
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: rs6332
rs6332
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.030 0.667 3 2008 2014
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: 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: 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: rs10492664
rs10492664
2 0.925 0.040 13 108163877 intergenic variant C/A;T snv 0.700 1.000 1 2008 2008