DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, C0007097

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
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv			16
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv			13
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs917411291	GZMM	0.851	0.360	19	544072	start lost	A/C;G	snv			9
rs917570055	GZMM	0.882	0.360	19	547342	start lost	A/G	snv			7
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44