DisGeNET - a database of gene-disease associations

List of associated variants

Carcinogenesis, C0596263

Source: BEFREE ×

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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
rs776225963	ATP4A			19	35555490	missense variant	G/A;T	snv	1.1E-04		1
rs776968306	FGFR1OP			6	167024793	missense variant	C/T	snv	4.0E-06		1
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs781490101	TP53	0.851	0.040	17	7673748	missense variant	T/C	snv	8.0E-06		5
rs1356083197	CNIH3 ; WDR26	1.000	0.040	1	224434068	missense variant	C/T	snv	1.5E-05	1.4E-05	2
rs138106763	SLC12A9	1.000	0.040	7	100857102	missense variant	A/G	snv	7.2E-05	1.2E-04	2
rs1390902532	CDKN2A	1.000	0.040	9	21968766	missense variant	T/C	snv	7.4E-06	7.0E-06	2
rs1670661	NELL1	1.000	0.040	11	21209124	intron variant	C/G;T	snv			2
rs587781351	CDH1	1.000	0.040	16	68828263	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		2
rs750949764	FOS	1.000	0.040	14	75280958	missense variant	G/C	snv	4.0E-06		2
rs866551255	CDKN1A	1.000	0.040	6	36684145	missense variant	G/A	snv			2
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			26
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs2303426	MSH2	0.790	0.080	2	47403411	intron variant	C/A;G;T	snv	1.9E-05; 0.47		8
rs6183	GHR	0.827	0.080	5	42718990	missense variant	C/A	snv	2.3E-03	7.4E-04	8
rs146795390	EGFR	0.827	0.080	7	55191776	missense variant	G/A	snv	8.0E-06	7.0E-06	7
rs17822931	ABCC11	0.827	0.080	16	48224287	missense variant	C/G;T	snv	4.0E-06; 0.22	0.13	7
rs762292600	ESR1	0.925	0.080	6	151944316	missense variant	A/G	snv	4.0E-06	1.4E-05	7
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs1057519853	GNAQ	0.851	0.080	9	77794572	missense variant	TG/AA	mnv			6
rs17878467	BIRC5	0.925	0.080	17	78214076	upstream gene variant	C/G;T	snv			6
rs188957694	ESR1	0.882	0.080	6	151944218	missense variant	G/A;C	snv	4.0E-05	4.9E-05	6
rs2566	LAMB3	0.882	0.080	1	209615169	3 prime UTR variant	G/A	snv		0.27	6
rs772399455	MYCNOS ; MYCN	0.851	0.080	2	15942096	missense variant	G/A;C	snv	4.0E-06		6
rs776935407	SGSM3	0.851	0.080	22	40409261	missense variant	T/A	snv	4.1E-06		6