DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Neoplasms, C0009404

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
rs1023835002	B2M ; PATL2	0.763	0.280	15	44711547	start lost	A/G;T	snv			10
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs104894231	LRRC56 ; HRAS	0.776	0.360	11	533467	missense variant	C/G;T	snv			7
rs1057519699	PIK3CA			3	179218315	missense variant	G/A	snv			2
rs1057519724	PTEN	1.000	0.080	10	87933236	missense variant	G/A;T	snv			3
rs1057519725	KRAS	0.851	0.320	12	25225627	missense variant	G/A	snv		7.0E-06	2
rs1057519728	MAP2K1	0.851	0.120	15	66435103	missense variant	T/A;C;G	snv			5
rs1057519732	MAP2K1	0.827	0.160	15	66436824	missense variant	C/A;T	snv			6
rs1057519738	MIR4728 ; ERBB2	0.790	0.160	17	39725079	missense variant	G/A	snv	4.0E-06		7
rs1057519739	SMAD4	1.000	0.080	18	51065518	missense variant	G/A;C	snv			1
rs1057519740	SMAD4			18	51065532	missense variant	C/A	snv			1
rs1057519741	SMAD4			18	51078417	missense variant	G/T	snv			1
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			17
rs1057519754	AKT2			19	40236313	missense variant	T/C	snv			1
rs1057519760	EGFR			7	55160314	missense variant	A/G	snv			1
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			10
rs1057519841	PIK3R1	0.925	0.120	5	68295269	missense variant	A/G	snv			5
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv			5
rs1057519877	B2M ; PATL2	0.763	0.280	15	44711549	start lost	G/A	snv			10
rs1057519879	PATL2 ; B2M	0.763	0.280	15	44711548	start lost	T/C;G	snv			10
rs1057519882	CDKN2A	0.807	0.200	9	21974678	missense variant	C/A	snv			7