DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of colon, C0007102

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
rs3744400	ELP5 ; CLDN7	0.925	0.080	17	7260404	synonymous variant	A/C;G	snv	4.1E-02; 8.0E-06; 4.0E-06	2.4E-02	2
rs2302313	EPX ; MKS1	0.925	0.080	17	58205665	3 prime UTR variant	G/A	snv	9.2E-02	8.3E-02	2
rs119490107	FSBP ; RAD54B	0.925	0.080	8	94399540	missense variant	C/A	snv	2.8E-05		2
rs4932178	FURIN	0.925	0.080	15	90868426	upstream gene variant	C/T	snv		0.32	2
rs680	IGF2 ; INS-IGF2	0.925	0.080	11	2132404	3 prime UTR variant	T/C;G	snv		0.78	2
rs8191754	IGF2R	0.925	0.080	6	160027292	missense variant	C/G	snv	0.13	0.13	2
rs1450640054	IGFBP3	0.925	0.080	7	45921122	missense variant	T/C	snv	1.0E-05		2
rs10958713	IKBKB	0.925	0.080	8	42323198	intron variant	C/T	snv		0.28	2
rs5029748	IKBKB	0.925	0.080	8	42283031	intron variant	G/T	snv		0.22	2
rs9694958	IKBKB ; LOC105379395	0.925	0.080	8	42298528	intron variant	A/G	snv		0.26	2
rs202011365	IL4 ; LOC105379176	0.925	0.080	5	132679748	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs17109924	LGR5	0.925	0.080	12	71584007	missense variant	T/C	snv	7.4E-02	8.6E-02	2
rs754527029	LOC105375284 ; EGFR	0.925	0.080	7	55019329	missense variant	C/T	snv			2
rs12490683	LOC105377207 ; MYLKP1	0.925	0.080	3	75329934	non coding transcript exon variant	G/A	snv		0.46	2
rs8039880	MAP2K1	0.925	0.080	15	66468004	intron variant	A/G	snv		0.21	2
rs11625206	MAP3K9	0.925	0.080	14	70727436	3 prime UTR variant	C/T	snv		0.26	2
rs1390282714	MAPK1	0.925	0.080	22	21769233	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs4548444	MAPKAPK2	0.925	0.080	1	206716793	intron variant	A/G	snv		0.20	2
rs10450310	MBL2	0.925	0.080	10	52764898	downstream gene variant	G/A	snv		0.29	2
rs2099902	MBL2	0.925	0.080	10	52766089	3 prime UTR variant	T/C	snv		0.33	2
rs779066883	MIR3188 ; JUND	0.925	0.080	19	18281184	missense variant	G/A	snv	6.2E-06		2
rs1553651073	MLH1	0.925	0.160	3	37025834	frameshift variant	CA/-	delins			2
rs587779018	MLH1	0.925	0.160	3	37008855	frameshift variant	T/-;TT	delins			2
rs779795819	MLH1	0.925	0.080	3	37048526	frameshift variant	-/ATTG	delins	4.0E-06		2
rs876658198	MLH1	0.925	0.080	3	37028855	missense variant	G/A	snv			2