DisGeNET - a database of gene-disease associations

List of associated variants

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, C4551906

Source: ALL

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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
rs397515395	LOC101930593 ; DNAAF3	0.925	0.160	19	55161684	frameshift variant	-/A	delins	7.3E-06; 7.3E-06		2
rs606231164	DNAI1	1.000	0.160	9	34489343	frameshift variant	-/AATA	ins			1
rs397515339	DNAAF1	0.925	0.160	16	84170172	frameshift variant	-/C	delins			2
rs797045147	RSPH4A	1.000	0.160	6	116616786	frameshift variant	-/C	delins			1
rs397515341	DNAAF2	0.925	0.160	14	49633935	frameshift variant	-/CCACGCAGGTATCGTG	delins	7.8E-06; 7.8E-06	2.8E-05	2
rs587777499	CCNO	0.925	0.160	5	55233261	frameshift variant	-/CGGGC;CGGGCCGGGC	delins			3
rs587778819	CCDC40	1.000	0.160	17	80089876	frameshift variant	-/CTGT;TGT	ins	3.6E-05		2
rs587776910	CCDC103 ; FAM187A	0.925	0.160	17	44902466	frameshift variant	-/G	delins			2
rs397515363	FAM219A ; DNAI1	1.000	0.160	9	34459054	splice donor variant	-/T	delins			2
rs587777502	CCNO	0.925	0.160	5	55233256	frameshift variant	-/TGGGC	delins	4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05		3
rs145457535	CCDC103 ; FAM187A	0.827	0.160	17	44902549	missense variant	A/C	snv	1.2E-03	1.3E-03	6
rs138815960	ZMYND10	0.925	0.160	3	50345533	splice donor variant	A/C	snv	2.7E-04	2.1E-04	3
rs544674332	DNAH1	0.925	0.160	3	52353613	missense variant	A/C	snv	4.4E-06	1.4E-05	2
rs587777047	ARMC4	0.925	0.160	10	27862453	missense variant	A/C	snv			2
rs200913791	RASSF1 ; ZMYND10	0.925	0.160	3	50342473	missense variant	A/G	snv	2.0E-04	3.5E-05	3
rs387907021	DNAL1	0.925	0.160	14	73689432	missense variant	A/G	snv			3
rs387907151	DNAAF3	0.925	0.160	19	55165904	missense variant	A/G	snv			2
rs587776997	DRC1	0.925	0.160	2	26454783	stop gained	A/T	snv			2
rs869320683	RSPH4A	0.925	0.160	6	116623002	splice region variant	AAGT/-	delins		2.7E-04	3
rs797045149	SPAG1	1.000	0.160	8	100191455	frameshift variant	AAGTA/-	delins			1
rs398122401	CFAP298 ; CFAP298-TCP10L	0.925	0.160	21	32601941	frameshift variant	AATA/-	delins	4.0E-06		2
rs587777503	CCNO	0.925	0.160	5	55232446	frameshift variant	AG/-	delins	4.0E-06	7.0E-06	2
rs863223325	CCDC65	0.925	0.160	12	48918751	frameshift variant	AT/-	delins			3
rs760123202	LRRC6	0.925	0.160	8	132632763	frameshift variant	C/-	delins	1.8E-04	7.0E-06	2
rs1554082275	DNAH5	1.000	0.160	5	13864463	frameshift variant	C/-	delins			1