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
rs145457535	CCDC103 ; FAM187A	0.827	0.160	17	44902549	missense variant	A/C	snv	1.2E-03	1.3E-03	6
rs771663107	DNAH5	0.882	0.160	5	13865675	stop gained	G/A	snv		7.0E-06	4
rs147718607	CCDC114	0.925	0.160	19	48303953	missense variant	C/T	snv	2.4E-04	2.2E-04	3
rs587777779	CCDC151	0.882	0.160	19	11426182	stop gained	C/A;T	snv			3
rs863223325	CCDC65	0.925	0.160	12	48918751	frameshift variant	AT/-	delins			3
rs587777498	CCNO	0.925	0.160	5	55233272	frameshift variant	CAGGG/-;CAGGGCAGGG	delins			3
rs587777499	CCNO	0.925	0.160	5	55233261	frameshift variant	-/CGGGC;CGGGCCGGGC	delins			3
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
rs143740376	CFAP298-TCP10L ; CFAP298	0.925	0.160	21	32609853	stop gained	G/A	snv	7.6E-05	8.4E-05	3
rs202094637	CFAP298-TCP10L ; CFAP298	0.925	0.160	21	32602299	stop gained	G/A;C	snv	4.0E-06; 8.0E-05		3
rs267607227	DNAAF1	0.925	0.160	16	84154748	missense variant	T/C;G	snv			3
rs387907152	DNAAF3	0.925	0.160	19	55165427	stop gained	G/A	snv		7.0E-06	3
rs387907021	DNAL1	0.925	0.160	14	73689432	missense variant	A/G	snv			3
rs142371860	DRC1	0.925	0.160	2	26421396	stop gained	C/A;T	snv	3.9E-04		3
rs397515414	HYDIN	0.882	0.160	16	71137272	stop gained	T/A	snv			3
rs397515340	MRPS18A ; RSPH9	0.925	0.160	6	43670918	inframe insertion	GAA/-;GAAGAA	delins		4.2E-05	3
rs200913791	RASSF1 ; ZMYND10	0.925	0.160	3	50342473	missense variant	A/G	snv	2.0E-04	3.5E-05	3
rs138320978	RSPH1	0.925	0.160	21	42493049	stop gained	C/A;T	snv	2.6E-04; 2.0E-05		3
rs151107532	RSPH1	0.925	0.160	21	42486463	splice acceptor variant	T/G	snv	3.7E-04	4.7E-04	3
rs869320683	RSPH4A	0.925	0.160	6	116623002	splice region variant	AAGT/-	delins		2.7E-04	3
rs201740530	SPAG1	0.882	0.160	8	100233436	stop gained	C/T	snv	8.7E-05	9.8E-05	3
rs138815960	ZMYND10	0.925	0.160	3	50345533	splice donor variant	A/C	snv	2.7E-04	2.1E-04	3
rs145742175	ARMC4	0.925	0.160	10	27944296	stop gained	C/A;T	snv	2.4E-05; 1.2E-05		2
rs587777047	ARMC4	0.925	0.160	10	27862453	missense variant	A/C	snv			2
rs587776910	CCDC103 ; FAM187A	0.925	0.160	17	44902466	frameshift variant	-/G	delins			2