DisGeNET - a database of gene-disease associations

List of shared variants

Hyperphenylalaninaemia, C0751435

Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency

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
rs104894275	PTS	0.882	0.120	11	112228665	missense variant	A/G	snv	1.2E-04	7.0E-06	3
rs104894276	PTS	0.882	0.120	11	112233178	missense variant	C/G;T	snv	4.0E-06; 7.6E-05		3
rs104894277	PTS	0.925	0.120	11	112230210	missense variant	G/A;C	snv	1.6E-05; 8.0E-06		2
rs104894280	PTS	0.925	0.120	11	112233205	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs1167104933	PTS	0.925	0.120	11	112226516	stop gained	C/G;T	snv			2
rs200712908	PTS	0.925	0.120	11	112233434	missense variant	C/T	snv	1.2E-04	9.8E-05	2