DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: CCND1 ×

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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
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs603965	CCND1	0.732	0.440	11	69648142	splice region variant	G/A	snv			14
rs678653	CCND1	0.925	0.120	11	69651969	3 prime UTR variant	C/G;T	snv			5
rs1340132260	CCND1	0.925	0.080	11	69641336	missense variant	G/A	snv			2
rs7177	CCND1	1.000	0.120	11	69651347	3 prime UTR variant	C/A	snv		0.44	2
rs766170770	CCND1	0.925	0.080	11	69641374	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs1944129	CCND1	1.000	0.120	11	69639167	upstream gene variant	C/G;T	snv			1
rs3017621	CCND1			11	69642133	intron variant	G/C;T	snv			1
rs3212879	CCND1			11	69648711	intron variant	GG/-;G	delins		0.44	1
rs3212880	CCND1			11	69648911	intron variant	A/G	snv		5.4E-02	1
rs34507830	CCND1	1.000	0.080	11	69646918	intron variant	C/T	snv		1.5E-02	1
rs3918292	CCND1			11	69642779	intron variant	C/T	snv		9.1E-02	1