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: rs6065904
rs6065904
7 1.000 0.080 20 45906012 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10812227
rs10812227
2 1.000 0.080 9 2548556 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1106076
rs1106076
2 1.000 0.080 7 5581212 regulatory region variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs12305135
rs12305135
2 1.000 0.080 12 130150660 non coding transcript exon variant T/C snv 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2014 2014
dbSNP: rs201815520
rs201815520
1 1.000 0.080 6 77463302 synonymous variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2013 2013