DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: Colorectal Carcinoma

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			37
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
rs121913224	APC	0.742	0.200	5	112839515	frameshift variant	AAAGA/-	delins			14
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			14
rs150766139	NTHL1 ; TSC2	0.742	0.320	16	2046238	stop gained	G/A	snv	1.4E-03	1.4E-03	13
rs1131691003	TP53	0.752	0.360	17	7676381	splice donor variant	C/A;G	snv			12
rs1131691042	TP53	0.752	0.360	17	7675052	splice donor variant	C/T	snv			12
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		11
rs483352909	POLE	0.752	0.160	12	132673664	missense variant	G/A;C	snv	1.6E-05		11
rs137854573	APC	0.807	0.120	5	112828889	stop gained	C/T	snv			10
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			10