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: rs105633
rs105633
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1202874
rs1202874
1 1.000 0.040 X 151179756 intron variant C/G;T snv 7.0E-06; 0.83 0.010 1.000 1 2010 2010
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs1062613
rs1062613
7 0.807 0.080 11 113975284 5 prime UTR variant T/C snv 0.79 0.71 0.010 1.000 1 2012 2012
dbSNP: rs4523096
rs4523096
1 1.000 0.040 6 152472277 intron variant C/A snv 0.76 0.79 0.700 1.000 1 2018 2018
dbSNP: rs6971
rs6971
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.020 1.000 2 2013 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs1618355
rs1618355
2 0.925 0.040 21 44406579 intron variant C/A;G snv 0.73; 1.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs1051375
rs1051375
1 1.000 0.040 12 2679713 synonymous variant G/A snv 0.68 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2014 2014
dbSNP: rs919390
rs919390
1 1.000 0.040 19 41966898 missense variant G/C;T snv 0.65; 6.5E-06 0.69 0.010 1.000 1 2009 2009
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 0.500 2 1993 2012
dbSNP: rs2070615
rs2070615
1 1.000 0.040 12 48824388 intron variant A/C;G snv 4.7E-06; 0.58 0.800 1.000 1 2011 2011
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2009 2009
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 < 0.001 1 2003 2003
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2000 2000
dbSNP: rs169068
rs169068
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2002 2002
dbSNP: rs2279574
rs2279574
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 16 1997 2017
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2007 2017
dbSNP: rs2302417
rs2302417
1 1.000 0.040 3 52780240 non coding transcript exon variant T/A snv 0.44; 3.1E-03; 1.5E-04; 1.0E-05 0.42 0.700 1.000 2 2017 2019