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: 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: 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 2011 2011
dbSNP: rs129882
rs129882
3 0.882 0.200 9 133658547 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs5320
rs5320
DBH
3 0.882 0.120 9 133642351 missense variant G/A snv 6.7E-02 8.5E-02 0.010 < 0.001 1 2012 2012