DisGeNET - a database of gene-disease associations

List of shared variants

Phenylketonurias, C0031485

Disease: Classical phenylketonuria

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
rs1445893088	PAH	1.000	0.120	12	102840468	missense variant	G/T	snv	4.0E-06		2
rs199475567	PAH	1.000	0.120	12	102912791	missense variant	C/A;T	snv			2
rs199475572	PAH	1.000	0.120	12	102877475	missense variant	T/A;C	snv			2
rs199475658	PAH	1.000	0.120	12	102843646	missense variant	C/G;T	snv	4.0E-06		2
rs5030843	PAH	1.000	0.120	12	102866632	missense variant	C/G;T	snv	8.0E-06; 9.2E-05		2
rs5030846	PAH	1.000	0.120	12	102852930	stop gained	G/A	snv	4.4E-05	4.2E-05	2
rs5030847	PAH	1.000	0.120	12	102852903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06		2
rs5030859	PAH	1.000	0.120	12	102840492	missense variant	C/T	snv	4.8E-05	3.5E-05	2
rs62507329	PAH	1.000	0.120	12	102843761	missense variant	G/A;T	snv	4.0E-06		2
rs62508577	PAH	1.000	0.120	12	102855150	missense variant	G/A	snv			2
rs62508646	PAH	1.000	0.120	12	102844356	missense variant	A/C;G	snv	6.8E-05		2
rs62508698	PAH	1.000	0.120	12	102852819	missense variant	C/G;T	snv	4.0E-06; 5.6E-05		2
rs62508721	PAH	1.000	0.120	12	102855222	missense variant	T/C	snv			2
rs62514927	PAH	1.000	0.120	12	102855231	missense variant	T/C	snv	1.2E-05	7.0E-06	2
rs62514952	PAH	1.000	0.120	12	102852843	stop gained	C/A	snv	3.6E-05	6.3E-05	2
rs62516092	PAH	1.000	0.120	12	102844359	missense variant	G/C	snv	1.0E-04	1.3E-04	2
rs62516101	PAH	1.000	0.120	12	102843683	missense variant	C/G;T	snv	8.4E-05		2
rs62516103	PAH	1.000	0.120	12	102843662	missense variant	C/G	snv	2.0E-05	7.0E-06	2
rs62642926	PAH	1.000	0.120	12	102912842	missense variant	G/C	snv	9.5E-05	9.1E-05	2
rs62642932	PAH	1.000	0.120	12	102852882	missense variant	C/T	snv	4.0E-06		2
rs74603784	PAH	1.000	0.120	12	102912823	missense variant	C/G;T	snv	7.6E-05	2.8E-05	2
rs76296470	PAH	1.000	0.120	12	102894756	stop gained	G/A	snv	2.8E-05	4.2E-05	2
rs76394784	PAH	1.000	0.120	12	102894883	missense variant	T/A	snv	4.8E-05	7.0E-05	2
rs76542238	PAH	1.000	0.120	12	102839194	missense variant	G/T	snv	8.0E-06	1.4E-05	2
rs773526027	PAH	1.000	0.120	12	102840497	missense variant	T/C	snv	1.2E-05	2.1E-05	2