DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Ciliary Motility Disorders ×

Variants associated to the Gene: DNAH8-AS1 ×

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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
rs1223799853	DNAH8-AS1 ; DNAH8			6	38906363	stop gained	G/T	snv	8.0E-06		1
rs1437893220	DNAH8-AS1 ; DNAH8			6	38917951	stop gained	G/A	snv		7.0E-06	1
rs1554132747	DNAH8-AS1 ; DNAH8			6	38907955	splice acceptor variant	G/T	snv			1
rs376903331	DNAH8-AS1 ; DNAH8			6	38926054	splice acceptor variant	G/A;T	snv	1.6E-05; 4.0E-06		1
rs769929539	DNAH8-AS1 ; DNAH8			6	38938012	stop gained	C/T	snv	2.0E-05	2.8E-05	1
rs776791493	DNAH8-AS1 ; DNAH8			6	38935698	splice donor variant	G/A;T	snv	1.2E-05; 2.5E-05		1