DisGeNET - a database of gene-disease associations

List of shared variants

Cardio-facio-cutaneous syndrome, C1275081

Disease: Noonan Syndrome 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
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs180177042	BRAF	0.807	0.280	7	140749365	missense variant	A/C;T	snv			8
rs387906660	BRAF	0.790	0.280	7	140801550	missense variant	G/A;C;T	snv			7
rs387906661	BRAF	0.807	0.280	7	140801551	missense variant	T/G	snv			6
rs397507466	BRAF	0.807	0.280	7	140801537	missense variant	T/A;C;G	snv	4.0E-06		6
rs397516895	BRAF	0.827	0.280	7	140753392	missense variant	A/T	snv			5
rs180177034	BRAF	0.882	0.200	7	140801536	missense variant	C/G	snv			3