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
rs370662884	CTNNB1	0.925	0.080	3	41225816	synonymous variant	G/A	snv	3.2E-05	4.9E-05	3
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		11
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34
rs730882005	TP53	0.701	0.400	17	7674250	missense variant	C/A;G;T	snv	8.0E-06		20
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		14
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs1414521156	SLCO6A1			5	102459731	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		1
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs772110575	PIK3CA	0.807	0.160	3	179198938	missense variant	G/A;T	snv	4.0E-06		7
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs764918809	MDM2	0.827	0.160	12	68839337	missense variant	T/C	snv	4.0E-06		6
rs747241612	FBXW7	0.752	0.240	4	152326215	missense variant	G/C	snv	4.0E-06		12
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06		21
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24