DisGeNET - a database of gene-disease associations

List of shared variants

Liver carcinoma, C2239176

Disease: Malignant neoplasm of colon and/or rectum

Source: BEFREE ×

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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
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	118
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	92
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	169
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	24
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	24
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4149963	EXO1	0.851	0.120	1	241872080	missense variant	C/T	snv	0.11; 6.8E-05	7.6E-02	7
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			32
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs10012	CYP1B1 ; CYP1B1-AS1	0.716	0.280	2	38075247	missense variant	G/C	snv	0.31	0.36	16
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	36
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59		46
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		114
rs3116496	CD28	0.776	0.160	2	203729789	intron variant	T/C	snv	0.15	0.14	11
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs4675379	ICOS	0.851	0.120	2	203961372	3 prime UTR variant	G/C	snv		0.15	4
rs7421861	LOC105373977 ; PDCD1	0.790	0.200	2	241853198	intron variant	A/G;T	snv			9