DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Neoplasms, C0009404

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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs7542665	L1TD1	0.790	0.080	1	62207365	missense variant	T/C	snv	0.63	0.67	9
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1057941	GBAP1	0.701	0.280	1	155216951	non coding transcript exon variant	G/A;T	snv	0.46		18
rs12979278	MAMSTR	0.790	0.080	19	48715345	synonymous variant	C/T	snv	0.46	0.40	9
rs2229080	DCC	0.742	0.320	18	52906232	missense variant	C/A;G	snv	0.45		16
rs2070699	EDN1	0.752	0.080	6	12292539	intron variant	G/C;T	snv	0.45		14
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs3181245	TDP2	0.790	0.080	6	24651092	intron variant	C/G	snv	0.42	0.46	10
rs174533	MYRF ; TMEM258	0.763	0.160	11	61781553	intron variant	G/A	snv	0.37	0.29	18
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	32
rs2293581	GREM1 ; LOC100131315	0.776	0.080	15	32718535	5 prime UTR variant	G/A;C	snv	0.27		10
rs2293582	LOC100131315 ; GREM1	0.790	0.080	15	32718211	non coding transcript exon variant	G/A	snv	0.23	0.20	9
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	10
rs4836891	OR1J2	0.790	0.080	9	122511295	missense variant	G/A	snv	9.8E-02	6.7E-02	9
rs16845107	CFAP44 ; CFAP44-AS1	0.790	0.080	3	113409144	missense variant	C/A	snv	7.2E-02	7.4E-02	9
rs11692435	ACTR1B	0.790	0.080	2	97658891	missense variant	G/A	snv	7.0E-02	6.7E-02	10
rs11727676	HHIP	0.776	0.080	4	144737912	synonymous variant	T/C	snv	6.6E-02	6.4E-02	14
rs72942485	BOC	0.776	0.080	3	113280713	intron variant	G/A	snv	2.7E-02	4.5E-02	10
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs11571818	BRCA2	0.708	0.280	13	32394673	intron variant	T/C	snv	6.6E-03	6.0E-03	17
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs770292690	TCHP			12	109908872	missense variant	C/T	snv	5.6E-05	9.8E-05	1