DisGeNET - a database of gene-disease associations

List of shared variants

Colorectal Neoplasms, C0009404

Disease: PTEN Hamartoma Tumor 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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			24
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121913289	PTEN	1.000	0.080	10	87958013	frameshift variant	A/-	delins			4
rs1057519724	PTEN	1.000	0.080	10	87933236	missense variant	G/A;T	snv			3