DisGeNET - a database of gene-disease associations

List of associated variants

Autosomal Recessive Polycystic Kidney Disease, C0085548

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
rs137852944	PKHD1	0.925	0.240	6	52083201	missense variant	G/A	snv	4.5E-04	4.7E-04	5
rs786204707	PKHD1	0.925	0.200	6	52043636	stop gained	C/T	snv			4
rs747483368	PKD1	0.925	0.240	16	2114808	missense variant	G/A;C	snv	8.1E-06		3
rs1555458413	PKD1	0.925	0.120	16	2116010	missense variant	G/A	snv			2
rs777460677	PKD1 ; LOC105371049	0.925	0.120	16	2093917	inframe insertion	AGCCAC/-;AGCCACAGCCAC	delins			2
rs1553925470	PKD2	0.925	0.120	4	88038502	splice region variant	AAGT/-	delins			2
rs1375765328	PKHD1	0.925	0.200	6	52083252	missense variant	C/T	snv	1.2E-05	1.4E-05	2
rs137852949	PKHD1	0.925	0.240	6	52058349	stop gained	G/A;C	snv	6.6E-04; 4.0E-06		2
rs181208607	PKHD1	1.000	0.120	6	51847966	stop gained	G/T	snv	2.0E-05	2.8E-05	2
rs200391019	PKHD1	0.925	0.120	6	52024940	missense variant	G/A	snv	1.5E-04	6.3E-05	2
rs369925690	PKHD1	0.925	0.120	6	52071009	missense variant	T/C;G	snv	1.0E-04		2
rs727504096	PKHD1	0.925	0.120	6	52079920	stop gained	G/A	snv	8.0E-06	1.4E-05	2
rs745770404	PKHD1	0.925	0.120	6	52050157	missense variant	C/T	snv	1.6E-05	1.4E-05	2
rs746972457	PKHD1	0.925	0.240	6	52026044	frameshift variant	G/-	delins	5.1E-04	2.2E-04	2
rs754392766	PKHD1	1.000	0.120	6	52058355	stop gained	G/A;C	snv			2
rs1325300747	LOC105371049 ; MIR1225 ; PKD1	1.000	0.120	16	2091857	stop gained	G/A;C	snv			1
rs766551411	LOC105371049 ; MIR1225 ; PKD1	1.000	0.120	16	2090802	stop gained	G/A;C	snv	4.1E-06; 4.1E-06		1
rs1555444334	LOC105371049 ; PKD1 ; MIR1225	1.000	0.120	16	2090196	splice acceptor variant	T/A;G	snv			1
rs1057516652	LOC105375087 ; PKHD1	1.000	0.120	6	51659300	frameshift variant	T/-	delins			1
rs1057516835	LOC105375087 ; PKHD1	1.000	0.120	6	51659708	frameshift variant	A/-	delins			1
rs1057517047	LOC105375087 ; PKHD1	1.000	0.120	6	51659153	frameshift variant	TA/-	delins			1
rs137852950	LOC105375087 ; PKHD1	1.000	0.120	6	51659714	missense variant	A/C	snv	7.2E-05	8.4E-05	1
rs148617572	LOC105375087 ; PKHD1	1.000	0.120	6	51659682	missense variant	G/A	snv	5.2E-05	2.1E-05	1
rs1554174796	LOC105375087 ; PKHD1	1.000	0.120	6	51648099	frameshift variant	A/-	del			1
rs1554174903	LOC105375087 ; PKHD1	1.000	0.120	6	51648120	splice acceptor variant	T/C	snv			1