DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal cancer, hereditary nonpolyposis, type 1, C2936783

Source: ALL

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
rs17217772	MSH2	0.790	0.240	2	47410107	missense variant	A/C;G;T	snv	5.8E-03		10
rs17224367	MSH2	0.882	0.160	2	47429833	missense variant	C/G;T	snv	1.5E-03		3
rs61756468	MSH2	1.000	0.160	2	47475151	missense variant	A/G	snv	1.2E-03	4.1E-04	1
rs63750716	MSH2	0.925	0.160	2	47410232	missense variant	A/G	snv	4.7E-04	1.3E-04	2
rs63750124	MSH2	1.000	0.160	2	47410162	missense variant	T/G	snv	3.2E-04	3.1E-04	1
rs41295288	MSH2	1.000	0.160	2	47475052	missense variant	A/G	snv	3.2E-04	2.2E-04	1
rs34136999	MSH2	1.000	0.160	2	47414291	missense variant	C/T	snv	3.0E-04	4.5E-04	1
rs55778204	MSH2	0.925	0.160	2	47470993	missense variant	A/G	snv	2.3E-04	7.7E-05	2
rs33946261	MSH2	1.000	0.160	2	47403329	missense variant	C/G;T	snv	2.2E-04	1.8E-04	1
rs63750466	MSH2	1.000	0.160	2	47403195	missense variant	G/A	snv	1.5E-04	7.7E-05	1
rs201118107	MSH2	1.000	0.160	2	47471051	missense variant	A/C;G;T	snv	8.0E-06; 1.0E-04; 1.2E-05		1
rs63750757	MSH2	1.000	0.160	2	47480737	missense variant	G/A	snv	9.9E-05	7.7E-05	1
rs63750617	FBXO11 ; MSH6	0.851	0.160	2	47803473	missense variant	C/G;T	snv	4.0E-06; 9.5E-05		6
rs63750255	MSH2	1.000	0.160	2	47410226	missense variant	G/C	snv	8.7E-05	7.0E-05	1
rs267608022	MSH2	0.925	0.200	2	47482858	missense variant	C/G;T	snv	8.0E-06; 8.4E-05		2
rs63751107	MSH2	1.000	0.160	2	47403288	missense variant	A/C;G	snv	6.7E-05; 1.3E-05		1
rs63751454	MSH2	1.000	0.160	2	47414389	missense variant	G/A	snv	6.0E-05	7.9E-05	1
rs63751448	MLH1	1.000	0.160	3	37017509	missense variant	G/A;C;T	snv	4.8E-05; 4.0E-06		2
rs544654228	RAD51L3-RFFL ; RAD51D	1.000	0.160	17	35106469	missense variant	G/A;C;T	snv	4.0E-05		1
rs193922376	MSH2	0.925	0.160	2	47414421	splice region variant	A/G;T	snv	3.3E-05		4
rs63750790	MSH2	1.000	0.160	2	47476425	missense variant	G/A	snv	3.2E-05	7.0E-06	3
rs587779333	PMS2 ; AIMP2	0.851	0.200	7	6009019	start lost	T/A;C;G	snv	4.0E-06; 2.8E-05		10
rs193922373	MSH2	1.000	0.160	2	47408493	missense variant	G/A	snv	2.4E-05		1
rs63750027	MSH2	1.000	0.160	2	47480753	missense variant	A/G	snv	2.4E-05	4.2E-05	1
rs587781462	MSH6 ; FBXO11	0.882	0.200	2	47800283	missense variant	C/A;G;T	snv	1.6E-05		4