DisGeNET - a database of gene-disease associations

List of associated variants

Cleft Palate alone, C3841283

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
rs1546124	CRISPLD2	0.807	0.200	16	84838445	5 prime UTR variant	G/A;C	snv	8.6E-06; 0.67		7
rs2326398	CRISPLD2	0.827	0.200	16	84869111	intron variant	A/G	snv		0.37	5
rs3758249	PTCSC2 ; FOXE1	0.882	0.200	9	97851858	intron variant	T/C	snv		0.63	3
rs4460498		0.925	0.120	9	97858130	downstream gene variant	T/C	snv		0.63	2