DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOFACIOCUTANEOUS SYNDROME 2, C3809005

Source: INFERRED ×

Results per page

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
rs104894360	KRAS	0.724	0.560	12	25209904	missense variant	T/A;C	snv			14
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9
rs104894359	KRAS	0.851	0.200	12	25227346	missense variant	C/G;T	snv			4
rs730880471	KRAS	0.851	0.280	12	25225709	missense variant	C/T	snv			4
rs727503110	KRAS	0.882	0.160	12	25245320	missense variant	T/A;C	snv			3
rs104894361	KRAS	0.882	0.240	12	25245370	missense variant	T/A;C;G	snv	4.0E-06		2
rs387907205	KRAS	0.925	0.160	12	25227313	missense variant	A/C;G	snv			2
rs104894362	KRAS	0.882	0.200	12	25209894	missense variant	G/C	snv			1
rs387907206	KRAS	1.000		12	25225625	missense variant	T/C	snv			1