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
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs869025340	BRAF	0.925	0.160	7	140777032	missense variant	A/C;G;T	snv			5
rs397516893	BRAF	0.925	0.160	7	140778048	missense variant	A/C	snv			3
rs121434497	MAP2K2	0.925	0.160	19	4117552	missense variant	A/C;T	snv			2
rs121434499	MAP2K2	0.925	0.160	19	4110559	missense variant	A/G	snv			2
rs121908594	MAP2K1	0.925	0.160	15	66435104	missense variant	T/C	snv			2
rs1457537911	FGFR3	1.000	0.160	4	1801883	missense variant	A/G	snv		7.0E-06	2
rs267607230	MAP2K2	0.925	0.160	19	4110576	missense variant	G/A;C;T	snv			2
rs387907205	KRAS	0.925	0.160	12	25227313	missense variant	A/C;G	snv			2
rs397516793	MAP2K1	0.925	0.160	15	66436842	missense variant	T/C	snv			2
rs797044593	MAP2K1	0.925	0.160	15	66436759	missense variant	A/G	snv			2
rs906171410	RAF1	1.000	0.160	3	12599738	missense variant	C/T	snv	1.6E-05	1.4E-05	2
rs180177037	BRAF	1.000	0.160	7	140778013	missense variant	T/C	snv			1
rs397507465	BRAF	1.000	0.160	7	140801542	missense variant	T/G	snv			1
rs397507470	BRAF	1.000	0.160	7	140801488	missense variant	G/T	snv			1
rs397507473	BRAF	1.000	0.160	7	140781605	missense variant	A/G	snv	4.0E-06		1
rs397507474	BRAF	1.000	0.160	7	140778061	missense variant	T/C;G	snv	4.0E-06		1
rs397507479	BRAF	1.000	0.160	7	140777011	missense variant	C/T	snv			1
rs397507480	BRAF	1.000	0.160	7	140754233	missense variant	A/C	snv			1
rs397507486	BRAF	1.000	0.160	7	140739813	missense variant	T/C	snv			1
rs397516789	MAP2K1	1.000	0.160	15	66435070	missense variant	C/T	snv			1
rs397516791	MAP2K1	1.000	0.160	15	66435221	missense variant	T/G	snv			1
rs397516892	BRAF	1.000	0.160	7	140778066	missense variant	G/T	snv			1
rs397516894	BRAF	1.000	0.160	7	140754208	missense variant	G/A;C	snv			1
rs730880517	MAP2K2	1.000	0.160	19	4117541	missense variant	T/C	snv			1