DisGeNET - a database of gene-disease associations

List of associated variants

Cardiovascular Abnormalities, C0243050

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
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		16
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			12
rs121918461	PTPN11	0.827	0.240	12	112450362	missense variant	A/C;G;T	snv			8
rs121918463	PTPN11	0.851	0.240	12	112477651	missense variant	T/A;C;G	snv			6
rs727505381	SOS1	0.925	0.160	2	39013523	missense variant	A/G	snv	4.0E-06		4