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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			25
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	1
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		20
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		12
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			20
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			13
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35