DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of colon, C0007102

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
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			18
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			15
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	11
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			10
rs137854575	APC	0.807	0.120	5	112838399	stop gained	C/A;G;T	snv	4.7E-04		9
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	9
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			8
rs387906234	APC	0.827	0.120	5	112839979	frameshift variant	AGAG/-;AG	delins			7
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		7
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			7
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
rs267608058	FBXO11 ; MSH6	0.851	0.200	2	47800130	frameshift variant	TCAG/-	delins		7.0E-06	6
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	6
rs63750781	MLH1	0.851	0.160	3	37004444	missense variant	C/G;T	snv	4.0E-06		6
rs587779157	MSH2	0.827	0.240	2	47408486	inframe deletion	GAAGTT/-	delins			6
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		6