DisGeNET - a database of gene-disease associations

List of associated variants

Cardio-facio-cutaneous syndrome, C1275081

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
rs397507476	BRAF	0.882	0.200	7	140778011	missense variant	T/A;G	snv			4
rs180177037	BRAF	1.000	0.160	7	140778013	missense variant	T/C	snv			1
rs397516893	BRAF	0.925	0.160	7	140778048	missense variant	A/C	snv			3
rs180177036	BRAF	0.925	0.200	7	140778053	missense variant	C/A;G	snv			2
rs397507475	BRAF	0.925	0.200	7	140778054	missense variant	A/G	snv			2
rs727504375	BRAF	0.925	0.200	7	140778059	missense variant	T/G	snv			2
rs397507474	BRAF	1.000	0.160	7	140778061	missense variant	T/C;G	snv	4.0E-06		1
rs397516892	BRAF	1.000	0.160	7	140778066	missense variant	G/T	snv			1
rs869025607	BRAF	1.000	0.160	7	140781598	inframe deletion	GTT/-	delins			1
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs397507473	BRAF	1.000	0.160	7	140781605	missense variant	A/G	snv	4.0E-06		1
rs869025606	BRAF	1.000	0.160	7	140781609	missense variant	A/C	snv			1
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs121913349	BRAF	0.925	0.200	7	140781618	missense variant	C/G;T	snv			2
rs397516904	BRAF	0.925	0.200	7	140801487	missense variant	T/C;G	snv			2
rs397507470	BRAF	1.000	0.160	7	140801488	missense variant	G/T	snv			1
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs397507469	BRAF	0.882	0.200	7	140801503	missense variant	G/T	snv			3
rs397516903	BRAF	0.925	0.200	7	140801533	missense variant	A/C;G	snv			2
rs180177034	BRAF	0.882	0.200	7	140801536	missense variant	C/G	snv			3
rs397507466	BRAF	0.807	0.280	7	140801537	missense variant	T/A;C;G	snv	4.0E-06		6
rs397507465	BRAF	1.000	0.160	7	140801542	missense variant	T/G	snv			1
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
rs1457537911	FGFR3	1.000	0.160	4	1801883	missense variant	A/G	snv		7.0E-06	2