DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Chronic Lymphocytic Leukemia

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
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs397507484	BRAF	0.752	0.480	7	140753333	missense variant	T/A;C;G	snv			10