DisGeNET - a database of gene-disease associations

List of shared variants

Non-Small Cell Lung Carcinoma, C0007131

Disease: Noonan Syndrome

Source: CLINVAR ×

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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
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			16
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		14
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		12
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			12
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		8
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			6
rs727504317	MAP2K1	0.807	0.320	15	66435145	missense variant	G/A	snv			6
rs727503108	KRAS	0.882	0.280	12	25227345	missense variant	C/A	snv	4.0E-06		3