DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

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
rs1021631442	FBXO11 ; MSH6	0.882	0.200	2	47806279	missense variant	G/A	snv			3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs1057517541	MLH1	0.925	0.160	3	37025817	stop gained	C/T	snv			3
rs1057517764	FBXO11 ; MSH6	1.000	0.160	2	47805628	frameshift variant	-/T	delins		7.0E-06	3
rs1057520735	MSH2	1.000	0.160	2	47476388	stop gained	C/G;T	snv			1
rs1060500702	MLH1	1.000	0.160	3	37007050	missense variant	G/A;C	snv			1
rs1060501991	MSH2	1.000	0.160	2	47480695	splice acceptor variant	G/A;C	snv			2
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv			13
rs1060504000	MLH1	0.925	0.160	3	37025666	missense variant	T/C	snv			2
rs1064793489	FBXO11 ; MSH6	1.000	0.160	2	47805027	splice donor variant	G/-	delins			2
rs1064793600	FBXO11 ; MSH6	1.000	0.160	2	47799597	inframe deletion	CTT/-	delins		7.0E-06	1
rs1064794566	PMS2	1.000	0.160	7	5986795	frameshift variant	T/-;TT	delins			2
rs1064796500	PMS2	1.000	0.160	7	5973455	frameshift variant	G/-	delins			1
rs1085308057	MSH2	0.925	0.160	2	47475244	missense variant	A/G	snv			3
rs111052004	MLH1 ; EPM2AIP1	0.925	0.160	3	36993549	start lost	T/A;C;G	snv	4.0E-06; 4.0E-06		2
rs1114167720	FBXO11 ; MSH6	1.000	0.160	2	47806490	frameshift variant	-/GAGACTA	delins			2
rs1114167729	MSH6 ; FBXO11	1.000	0.160	2	47806652	splice donor variant	G/C	snv			2
rs1114167801	MSH6 ; FBXO11	1.000	0.160	2	47799109	frameshift variant	AAAGA/-	delins			2
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
rs1114167811	MSH2	1.000	0.160	2	47475166	stop gained	T/G	snv			2
rs1114167815	MSH2	1.000	0.160	2	47475100	frameshift variant	-/A	delins			2
rs1114167817	MSH2	1.000	0.160	2	47466802	frameshift variant	C/-	delins			2