DisGeNET - a database of gene-disease associations

List of shared variants

Cleft palate with cleft lip, C0158646

Disease: OROFACIAL CLEFT 1

Source: ALL

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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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6
rs7078160	SHTN1	0.851	0.120	10	117068049	intron variant	G/A	snv		0.19	4