DisGeNET - a database of gene-disease associations

List of associated variants

Multiple pterygium syndrome, C0265261

Source: UNIPROT ×

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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
rs121912670	CHRNG	0.925	0.120	2	232542992	missense variant	C/T	snv	1.6E-05	1.4E-05	2
rs267606726	CHRNG	0.925	0.120	2	232540681	missense variant	T/G	snv			2