DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Leukemia, Myelocytic, Acute

Source: ALL

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
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
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
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
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
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
rs397507510	PTPN11	0.776	0.280	12	112450361	missense variant	G/A;C;T	snv			8