DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Ciliary Motility Disorders ×

Variants associated to the Gene: CCDC114 ×

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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
rs147718607	CCDC114	0.925	0.160	19	48303953	missense variant	C/T	snv	2.4E-04	2.2E-04	3
rs201133219	CCDC114	1.000		19	48297995	splice region variant	C/T	snv	8.0E-05	7.0E-05	2
rs1060500990	CCDC114			19	48303645	splice region variant	C/T	snv		1.4E-05	1
rs1421531868	CCDC114			19	48312079	frameshift variant	T/-	delins	6.3E-06		1
rs753915759	CCDC114			19	48297656	frameshift variant	-/G	delins		1.4E-05	1
rs766394527	CCDC114			19	48297653	frameshift variant	-/C	delins	2.4E-05	1.4E-05	1