DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Primary malignant neoplasm of lung ×

Variants associated to the Gene: CYP1B1 ×

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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
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1800440	CYP1B1	0.653	0.440	2	38070996	missense variant	T/C;G	snv	0.15; 4.0E-06		29
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs10012	CYP1B1 ; CYP1B1-AS1	0.716	0.280	2	38075247	missense variant	G/C	snv	0.31	0.36	16
rs1204382931	CYP1B1 ; CYP1B1-AS1	0.790	0.160	2	38075270	missense variant	A/C	snv	4.3E-06		10
rs760025060	CYP1B1 ; CYP1B1-AS1	0.776	0.200	2	38074936	missense variant	C/T	snv			10