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: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2008 2008
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2012 2012
dbSNP: rs5374
rs5374
1 1.000 0.080 18 77250689 synonymous variant T/C snv 0.57 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1437134
rs1437134
1 1.000 0.080 16 69696523 3 prime UTR variant A/G snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2009 2009
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 2010 2010
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs6719226
rs6719226
1 1.000 0.080 2 25173143 upstream gene variant C/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs6989250
rs6989250
1 1.000 0.080 8 53253835 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018