DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, C0007097

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
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
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
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			19
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18