DisGeNET - a database of gene-disease associations

List of shared variants

Leukemia, Myelocytic, Acute, C0023467

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
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			16
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs104894360	KRAS	0.724	0.560	12	25209904	missense variant	T/A;C	snv			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
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9