DisGeNET - a database of gene-disease associations

List of shared variants

Hyperphenylalaninemia, BH4-Deficient, B, C0268467

Disease: Dopa-Responsive Dystonia

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs104894435	GCH1	0.882	0.120	14	54902341	missense variant	C/T	snv			3
rs41298442	GCH1	0.882	0.120	14	54844099	missense variant	T/C;G	snv	3.9E-04		3
rs104894445	GCH1	0.925	0.120	14	54845843	missense variant	C/T	snv			2
rs1418922853	GCH1	0.925	0.120	14	54845780	missense variant	A/C;T	snv	4.0E-06		2
rs1555358507	GCH1	0.925	0.120	14	54845767	splice donor variant	C/A;T	snv			2
rs1555360050	GCH1	0.925	0.120	14	54865437	splice acceptor variant	C/G;T	snv			2
rs1555362845	GCH1	0.925	0.120	14	54902467	frameshift variant	AGCTCGTTATCC/T	delins			2
rs1566687244	GCH1	0.925	0.120	14	54902383	missense variant	G/T	snv			2
rs1566687321	GCH1	0.925	0.120	14	54902441	frameshift variant	AGGC/-	del			2
rs988395114	GCH1	0.925	0.120	14	54845787	missense variant	C/T	snv			2