DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Rieger syndrome ×

Variants associated to the Gene: PTCH1 ×

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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
rs147067171	PTCH1	0.925	0.080	9	95447309	missense variant	T/C	snv	5.5E-04	5.0E-04	2
rs372027952	PTCH1	1.000	0.080	9	95447367	missense variant	G/A	snv	3.2E-05	4.2E-05	1