DisGeNET - a database of gene-disease associations

List of associated variants

Congenital anomaly of face, C0266617

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
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs786204849	FIBP	0.882	0.200	11	65885181	stop gained	G/A	snv			7
rs878853161	SLC2A1	0.851	0.240	1	42929977	frameshift variant	AT/-	del			7
rs1135402758	NUP214	1.000		9	131199023	intron variant	T/-	delins			5
rs869312666	MTOR	0.925	0.160	1	11129789	missense variant	A/C	snv			4