DisGeNET - a database of gene-disease associations

List of associated variants

Primary malignant neoplasm, C1306459

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs80359194	BRCA2	13	32394703	missense variant	G/A	snv	4.0E-06	2.8E-05	2
rs1260256848	BRD2	6	32976634	missense variant	G/T	snv			2
rs4910118	CAND1.11	11	10308138	upstream gene variant	C/T	snv		3.5E-02	2
rs3824120	CASC11 ; MYC	8	127735707	missense variant	G/A;C;T	snv			2
rs2705901	CASP3	4	184638333	intron variant	G/C	snv		0.88	2
rs3124740	CASP7	10	113709866	intron variant	C/A;G;T	snv			2
rs1458511470	CASP8	2	201272639	frameshift variant	-/C	delins			2
rs2308941	CASP9	1	15518223	missense variant	G/A	snv	1.0E-02	1.0E-02	2
rs4646018	CASP9	1	15513879	intron variant	T/C	snv		0.59	2
rs768455935	CAV1	7	116559277	missense variant	A/G	snv	4.0E-06		2
rs11821102	CD44	11	35230997	3 prime UTR variant	G/A	snv		6.8E-02	2
rs4134994	CDC6	17	40287379	upstream gene variant	A/G	snv		0.24	2
rs1276639827	CDKN1A	6	36684171	missense variant	C/T	snv	4.0E-06		2
rs111853599	CENPE	4	103196214	missense variant	A/G	snv	4.0E-06		2
rs587782441	CHEK2	22	28696984	missense variant	G/A	snv			2
rs747797219	CHEK2	22	28689135	missense variant	C/A;G	snv	4.3E-06		2
rs35094336	CHMP4C	8	81758536	missense variant	G/A	snv	5.4E-02	5.0E-02	2
rs73229797	CHRNA9	4	40334646	upstream gene variant	A/G	snv		0.18	2
rs550675	COL9A1	6	70269490	intron variant	C/T	snv		0.49	2
rs757308934	CSF3	17	40016599	missense variant	G/A	snv	9.2E-05	4.9E-05	2
rs1443436918	CTNNA2	2	80313596	missense variant	G/A	snv			2
rs376745664	CTNNA2	2	79744574	missense variant	G/A	snv	8.1E-06	2.1E-05	2
rs1798802	CTNNB1	3	41220488	intron variant	A/G	snv		0.43	2
rs11575899	CYP19A1 ; MIR4713HG	15	51227749	intron variant	AGA/-;AGAAGA	delins			2
rs2567207	CYP1B1-AS1 ; CYP1B1	2	38076500	non coding transcript exon variant	A/G	snv		0.23	2