DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Source: CLINVAR ×

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
rs63750781	MLH1	0.851	0.160	3	37004444	missense variant	C/G;T	snv	4.0E-06		6
rs267607845	MLH1	0.925	0.160	3	37042267	splice acceptor variant	G/A;T	snv			5
rs267607901	MLH1	0.882	0.160	3	37050633	frameshift variant	AA/-;A;AAAA	delins			5
rs267608078	FBXO11 ; MSH6	0.882	0.160	2	47803501	frameshift variant	C/-;CC;CCC	delins			5
rs63749873	MSH6 ; FBXO11	0.882	0.160	2	47795903	stop gained	C/G	snv	4.0E-06	1.4E-05	5
rs63749932	MSH2	0.882	0.160	2	47476399	stop gained	C/G;T	snv	1.6E-05; 4.0E-06		5
rs63750617	FBXO11 ; MSH6	0.851	0.160	2	47803473	missense variant	C/G;T	snv	4.0E-06; 9.5E-05		5
rs63751194	MLH1	0.851	0.160	3	37017508	missense variant	C/A;T	snv	4.0E-06		5
rs869312769	MSH6 ; FBXO11	0.882	0.160	2	47799334	frameshift variant	T/-	delins			5
rs1553333753	MSH6 ; FBXO11	0.925	0.160	2	47806643	splice donor variant	-/ATTT	delins			4
rs193922343	FBXO11 ; MSH6	0.925	0.160	2	47806254	frameshift variant	AGAA/-;AGAAAAGAA;AGAAAGAA	delins			4
rs193922370	MLH1	0.925	0.160	3	37008813	splice acceptor variant	G/A;C;T	snv			4
rs193922376	MSH2	0.925	0.160	2	47414421	splice region variant	A/G;T	snv	3.3E-05		4
rs201451115	PMS2	0.925	0.160	7	5986826	stop gained	T/A	snv	4.0E-06		4
rs267607767	MLH1	0.925	0.160	3	37012009	splice acceptor variant	A/C;G	snv			4
rs267607853	MLH1	0.925	0.160	3	37042332	splice donor variant	G/A;C;T	snv			4
rs267607943	MSH2	0.925	0.160	2	47429740	splice acceptor variant	A/C;G;T	snv			4
rs267607953	MSH2	0.925	0.160	2	47429943	splice donor variant	T/A;C	snv	4.0E-06		4
rs267607969	MSH2	0.925	0.160	2	47466809	splice donor variant	G/A;T	snv			4
rs267608064	FBXO11 ; MSH6	0.925	0.160	2	47799614	frameshift variant	AAAA/-;AA	delins			4
rs267608077	MSH6 ; FBXO11	0.925	0.160	2	47799112	frameshift variant	AGAGA/-	delins			4
rs267608092	FBXO11 ; MSH6	0.925	0.160	2	47803553	frameshift variant	TT/-;T;TTT	delins			4
rs267608094	MSH6 ; FBXO11	0.925	0.160	2	47806641	stop gained	C/A;T	snv	4.1E-06; 4.1E-06		4
rs267608098	MSH6 ; FBXO11	0.925	0.160	2	47804908	splice acceptor variant	A/G;T	snv			4
rs267608120	FBXO11 ; MSH6	0.925	0.160	2	47806606	frameshift variant	CAAG/-	delins			4