DisGeNET - a database of gene-disease associations

List of associated variants

Cardio-facio-cutaneous syndrome, C1275081

Source: UNIPROT ×

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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
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			1
rs387907205	KRAS	0.925	0.160	12	25227313	missense variant	A/C;G	snv			1
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			1
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			1
rs121908594	MAP2K1	0.925	0.160	15	66435104	missense variant	T/C	snv			1
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		1
rs121434497	MAP2K2	0.925	0.160	19	4117552	missense variant	A/C;T	snv			1
rs121434498	MAP2K2	0.807	0.280	19	4117553	missense variant	A/C;G;T	snv			1
rs121434499	MAP2K2	0.925	0.160	19	4110559	missense variant	A/G	snv			1
rs267607230	MAP2K2	0.925	0.160	19	4110576	missense variant	G/A;C;T	snv			1
rs397517147	SOS1	0.882	0.200	2	39023131	missense variant	C/T	snv	4.0E-06		1