DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Hematologic Neoplasms

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
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
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
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			10
rs779530981	PTEN	1.000	0.160	10	87933035	missense variant	C/A	snv			4
rs1114167651	PTEN	1.000	0.160	10	87933107	missense variant	C/A;T	snv	4.0E-06		2
rs1239105602	PTEN ; KLLN	1.000	0.160	10	87864168	5 prime UTR variant	C/T	snv			2
rs917927904	PTEN ; KLLN	1.000	0.160	10	87864242	5 prime UTR variant	G/T	snv		7.0E-06	2