DisGeNET - a database of gene-disease associations

List of associated variants

Colonic Neoplasms, C0009375

Source: ALL

Results per page

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
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs201744589	TP53	0.882	0.240	17	7673728	stop gained	C/A;G;T	snv	4.0E-06; 1.2E-05		6
rs112431538	TP53	1.000	0.120	17	7673767	missense variant	C/T	snv		7.0E-06	4
rs56848936	SYMPK	0.776	0.080	19	45818249	intron variant	A/G	snv		1.9E-02	11
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	18
rs4725431	PRKAG2			7	151776093	intron variant	T/C	snv		0.19	2
rs6964824	PRKAG2			7	151654146	intron variant	T/C	snv		0.31	2
rs1064793236	PMS2			7	5986802	missense variant	C/T	snv		7.0E-06	1
rs587780053	PMS2			7	5977698	missense variant	C/T	snv	8.0E-06	1.4E-05	1
rs730881913	PMS2			7	6004023	missense variant	C/T	snv	4.0E-06		1
rs779512948	PMS2			7	5989800	missense variant	C/G;T	snv	4.0E-06		1
rs864622553	PMS2			7	5987540	missense variant	C/G	snv	1.2E-05	1.4E-05	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs768824654	MSH2	1.000	0.120	2	47403390	start lost	A/G	snv		7.0E-06	6
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			9
rs587778966	MLH1	0.925	0.160	3	36996698	frameshift variant	-/C	delins			3
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs772468040	FLT3			13	28057413	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs7987649	FLT1	0.925	0.080	13	28320278	intron variant	A/G	snv		0.35	4
rs4771249	FLT1			13	28439277	intron variant	G/A;C	snv			2