DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Short stature ×

Variants associated to the Gene: CLGN ×

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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
rs1560739587	CLGN			4	140396131	missense variant	T/C	snv			1
rs1560743601	CLGN			4	140405975	missense variant	G/T	snv			1
rs201306926	CLGN			4	140399004	missense variant	T/C	snv	3.6E-05	7.0E-06	1