DisGeNET - a database of gene-disease associations

Source: BEFREE

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs867114783	TP53		17	7675109	missense variant	T/C	snv			5
rs80359030	BRCA2	0.851	13	32363189	stop gained	G/A;T	snv	4.0E-06		5
rs886040738	BRCA2	0.851	13	32363188	frameshift variant	G/-	delins			5
rs200484060	DSG2	1.000	18	31536370	missense variant	T/G	snv	5.6E-05	1.4E-05	4
rs1269252748	VLDLR-AS1 ; VLDLR		9	2641436	missense variant	C/T	snv			4
rs760361706	PPARA		22	46235326	missense variant	G/C	snv	4.0E-06		4
rs9983925	ADARB1		21	45216929	intron variant	C/T	snv		0.46	4
rs876660427	APC		5	112838608	missense variant	C/T	snv			4
rs140516819	EGFR		7	55172999	missense variant	A/C;G	snv	4.0E-05	2.4E-04	4
rs35918369	EGFR		7	55205613	missense variant	C/T	snv	3.1E-04	3.3E-04	4
rs1018379423	EPHB2		1	22907986	missense variant	G/T	snv	4.0E-06	2.1E-05	4
rs767136747	SARDH		9	133717404	missense variant	T/C	snv	4.0E-06		4
rs1441008398	APC		5	112839334	missense variant	C/T	snv	4.0E-06		4
rs750605522	GOT2		16	58722168	missense variant	T/A	snv	4.0E-06	7.0E-06	4
rs3136558	IL1B	1.000	2	112833698	intron variant	A/G	snv		0.21	4
rs7668666	TLR3	1.000	4	186080138	intron variant	C/A;T	snv			4
rs863224683	TP53		17	7675224	missense variant	G/A;C	snv			4
rs1057518011	TMEM240		1	1535766	missense variant	C/T	snv			4
rs121434591	MATR3	1.000	5	139307669	missense variant	C/G	snv			4
rs211105	TPH1	1.000	11	18033757	intron variant	T/G	snv		0.19	4
rs2640909	PER3		1	7830057	missense variant	T/C	snv	0.14	0.23	4
rs201920319	THG1L	0.925	5	157731604	missense variant	T/C	snv	2.1E-04	1.2E-04	4
rs587777570	KIF5C	1.000	2	148947018	missense variant	G/A	snv			3
rs1052108705	TCF19 ; POU5F1		6	31165217	missense variant	C/T	snv	4.1E-06	2.1E-05	3
rs768746587	TCF19 ; POU5F1		6	31165136	missense variant	C/T	snv	8.4E-06		3