DisGeNET - a database of gene-disease associations

List of associated variants

Polycystic Kidney Diseases, C0022680

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
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs386833760	CC2D2A	0.790	0.360	4	15587929	splice donor variant	G/-	delins		1.9E-04	11
rs386834158	CEP290	0.851	0.280	12	88077790	frameshift variant	T/-	delins	2.2E-05	7.0E-06	10
rs137854521	ANO5	0.851	0.200	11	22221100	frameshift variant	-/A	delins			9
rs886039792	TXNDC15	0.807	0.280	5	134874531	splice donor variant	G/A	snv			9
rs886039806	KIAA0586	0.851	0.160	14	58467887	missense variant	T/A;C;G	snv			8
rs886039813	OFD1	0.827	0.160	X	13756600	frameshift variant	C/-	delins			8
rs758522600	BBS10	0.851	0.240	12	76347023	frameshift variant	CTAA/-	delins	4.0E-06	2.8E-05	7
rs1553827236	CC2D2A	0.882	0.200	4	15516757	splice donor variant	G/A	snv			7
rs1556009247	HDAC8	0.882		X	72490973	missense variant	A/C;T	snv			7
rs773386777	CEP290	1.000	0.160	12	88093977	splice acceptor variant	T/C	snv			6
rs751527253	NPHP3-ACAD11 ; NPHP3	0.827	0.240	3	132689264	splice acceptor variant	CT/-	del		2.6E-04	6
rs886039805	CEP290	0.925	0.120	12	88129872	frameshift variant	AA/-	delins			5
rs786205508	MKS1	0.851	0.200	17	58208542	stop gained	G/A	snv			5
rs1555452876	PKD1 ; MIR6511B1	1.000		16	2106222	inframe deletion	CTC/-	delins			5
rs137852944	PKHD1	0.925	0.240	6	52083201	missense variant	G/A	snv	4.5E-04	4.7E-04	5
rs886039791	TXNDC15	0.882	0.160	5	134893572	inframe deletion	AGTTTGGCCCCTCAC/-	delins			5
rs886039793	MARK4 ; EXOC3L2	0.882	0.120	19	45227667	frameshift variant	-/G	delins			4
rs1555454847	PKD1	0.882	0.240	16	2109266	inframe deletion	CAC/-	delins			4
rs786204707	PKHD1	0.925	0.200	6	52043636	stop gained	C/T	snv			4
rs886039804	TMEM138	0.882	0.120	11	61366050	missense variant	A/G	snv			4
rs786205134	ALG9	0.925	0.160	11	111840653	splice donor variant	A/T	snv			3
rs886039803	MKS1	0.925	0.120	17	58216664	splice donor variant	A/T	snv			3