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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			11
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6
rs397507483	BRAF	0.790	0.400	7	140753348	missense variant	C/A;T	snv			13
rs180177041	BRAF	0.851	0.240	7	140777006	missense variant	C/G	snv			5
rs180177034	BRAF	0.882	0.200	7	140801536	missense variant	C/G	snv			3
rs104894359	KRAS	0.851	0.200	12	25227346	missense variant	C/G;T	snv			5
rs180177038	BRAF	0.851	0.200	7	140778007	missense variant	C/G;T	snv			4
rs121913349	BRAF	0.925	0.200	7	140781618	missense variant	C/G;T	snv			2
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			9
rs397517147	SOS1	0.882	0.200	2	39023131	missense variant	C/T	snv	4.0E-06		3
rs727504382	MAP2K2	0.925	0.200	19	4101105	missense variant	C/T	snv			2
rs906171410	RAF1	1.000	0.160	3	12599738	missense variant	C/T	snv	1.6E-05	1.4E-05	2
rs397507479	BRAF	1.000	0.160	7	140777011	missense variant	C/T	snv			1
rs397516789	MAP2K1	1.000	0.160	15	66435070	missense variant	C/T	snv			1
rs727504317	MAP2K1	0.807	0.320	15	66435145	missense variant	G/A	snv			6
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7
rs397516894	BRAF	1.000	0.160	7	140754208	missense variant	G/A;C	snv			1
rs387906660	BRAF	0.790	0.280	7	140801550	missense variant	G/A;C;T	snv			7
rs267607230	MAP2K2	0.925	0.160	19	4110576	missense variant	G/A;C;T	snv			2