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
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
rs145457535	CCDC103 ; FAM187A	0.827	0.160	17	44902549	missense variant	A/C	snv	1.2E-03	1.3E-03	6
rs587776910	CCDC103 ; FAM187A	0.925	0.160	17	44902466	frameshift variant	-/G	delins			2
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
rs587777780	CCDC151	0.925	0.160	19	11422722	stop gained	G/A;T	snv	4.1E-06		2
rs587778819	CCDC40	1.000	0.160	17	80089876	frameshift variant	-/CTGT;TGT	ins	3.6E-05		2
rs745993158	CCDC40	1.000	0.160	17	80082059	splice donor variant	G/A	snv	4.0E-06		1
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
rs587777500	CCNO	0.925	0.160	5	55231502	frameshift variant	G/-	delins			2
rs587777501	CCNO	0.925	0.160	5	55231467	stop gained	G/A	snv			2
rs587777503	CCNO	0.925	0.160	5	55232446	frameshift variant	AG/-	delins	4.0E-06	7.0E-06	2
rs797045150	CCNO	0.925	0.160	5	55231712	missense variant	T/C	snv			2
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
rs398122401	CFAP298 ; CFAP298-TCP10L	0.925	0.160	21	32601941	frameshift variant	AATA/-	delins	4.0E-06		2
rs267607227	DNAAF1	0.925	0.160	16	84154748	missense variant	T/C;G	snv			3
rs397515339	DNAAF1	0.925	0.160	16	84170172	frameshift variant	-/C	delins			2
rs397515341	DNAAF2	0.925	0.160	14	49633935	frameshift variant	-/CCACGCAGGTATCGTG	delins	7.8E-06; 7.8E-06	2.8E-05	2
rs137853191	DNAAF2	1.000	0.160	14	49635127	stop gained	G/A;C;T	snv	3.7E-05; 6.1E-06		1
rs797045146	DNAAF2	1.000	0.160	14	49635119	frameshift variant	C/-	delins			1