DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Overgrowth ×

Variants associated to the Gene: PAH ×

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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
rs5030857	PAH	0.925	0.120	12	102840507	missense variant	G/A	snv	6.0E-04	5.6E-04	2
rs62508588	PAH	1.000	0.120	12	102852929	missense variant	C/A;T	snv	7.6E-05		2