DisGeNET - a database of gene-disease associations

List of associated variants

Turcot syndrome (disorder), C0265325

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
rs1554298082	PMS2	1.000	0.160	7	5987601	frameshift variant	A/-	del			2
rs587779342	PMS2	0.925	0.200	7	5999199	missense variant	T/G	snv	8.0E-06		2
rs587780724	PMS2	1.000	0.160	7	5987389	stop gained	G/C;T	snv			2
rs63750106	PMS2	0.925	0.200	7	5987458	frameshift variant	-/T	delins			2
rs63750793	PMS2	0.925	0.200	7	6004040	frameshift variant	T/-	del			2
rs869320619	PMS2	1.000	0.160	7	5986763	missense variant	T/C	snv			2
rs587776705	FBXO11 ; MSH6	1.000	0.160	2	47803633	inframe deletion	GTG/-	del			1
rs267607990	MSH2	1.000	0.160	2	47476362	splice region variant	T/A;C	snv			1
rs121434630	PMS2	1.000	0.160	7	6004003	stop gained	A/T	snv			1
rs188006077	PMS2	1.000	0.160	7	6003724	missense variant	G/A	snv	1.3E-05		1