DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Muscle hypotonia ×

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
rs1554708787	PTCH1	1.000		9	95506567	stop gained	C/T	snv			3
rs781768965	PTCH1	1.000		9	95508175	stop gained	C/A;G	snv	4.0E-06		3