DisGeNET - a database of gene-disease associations

List of associated variants

Scaphycephaly, C0265534

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
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs1554122802	FBN2	0.742	0.160	5	128335170	missense variant	C/T	snv			22
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs1884302		0.851	0.120	20	7125642	intron variant	T/C	snv		0.41	4
rs10262453	BBS9	0.925	0.080	7	33216427	intron variant	A/C	snv		0.27	2