DisGeNET - a database of gene-disease associations

List of shared variants

Colorectal Neoplasms, C0009404

Disease: Colorectal Carcinoma

Source: INFERRED ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		73
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	25
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	22
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	21
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			20
rs115707823		0.701	0.320	6	30374976	intergenic variant	G/A	snv			19
rs597808	ATXN2	0.742	0.200	12	111535554	intron variant	A/G	snv		0.67	19
rs7931342		0.689	0.360	11	69227030	intergenic variant	T/G	snv		0.58	19
rs1011970	CDKN2B-AS1	0.677	0.320	9	22062135	intron variant	G/T	snv		0.23	18
rs1057941	GBAP1	0.701	0.280	1	155216951	non coding transcript exon variant	G/A;T	snv	0.46		18
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	18
rs174533	MYRF ; TMEM258	0.763	0.160	11	61781553	intron variant	G/A	snv	0.37	0.29	18
rs4808075	BABAM1 ; USHBP1	0.701	0.280	19	17279482	intron variant	T/C	snv		0.26	18
rs56084662	FRY	0.701	0.280	13	32295727	3 prime UTR variant	G/A	snv		3.5E-03	18
rs11119608	KCNH1	0.708	0.280	1	210816167	intron variant	T/G	snv		0.21	17
rs11168936	TUBA1C	0.708	0.280	12	49251457	intron variant	T/A;C	snv			17
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	17