DBH, dopamine beta-hydroxylase, 1621

N. diseases: 202; N. variants: 26
Disease: ORTHOSTATIC HYPOTENSION 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606760
rs267606760 		1.000 9 133636672 missense variant G/A snv 3.3E-05 4.9E-05
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.800 1.000 1 2002 2002
dbSNP: rs267606761
rs267606761 		1.000 9 133647854 missense variant G/A snv 4.8E-05 1.2E-04
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.800 1.000 1 2002 2002
dbSNP: rs77576840
rs77576840 		1.000 9 133639848 missense variant C/A;T snv 8.2E-06; 7.8E-05
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.800 1.000 1 2002 2002
dbSNP: rs74853476
rs74853476 		1.000 9 133636712 splice donor variant T/C snv 7.2E-04 1.0E-03
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.700 1.000 6 2002 2017
dbSNP: rs75215331
rs75215331 		1.000 9 133647906 missense variant C/A;T snv 1.6E-05; 2.1E-03
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.700 0
dbSNP: rs863225244
rs863225244 		1.000 9 133642337 frameshift variant A/- del
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.700 0
dbSNP: rs863225245
rs863225245 		1.000 9 133643474 missense variant G/T snv
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.700 0
dbSNP: rs863225246
rs863225246 		1.000 9 133657174 missense variant A/G snv 4.0E-06
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.700 0