DisGeNET - a database of gene-disease associations

List of associated variants

Kidney Failure, C0035078

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
rs3759126	AQP2	0.882	0.080	12	49950079	upstream gene variant	A/G	snv		0.23	3
rs3024912	LOC105373805	0.925	0.120	2	191028361	intron variant	A/C	snv		0.29	2
rs4281481	CCDC179 ; GAS2	0.882	0.080	11	22859013	intron variant	C/G	snv		0.36	3
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs4362	ACE	0.807	0.240	17	63496400	missense variant	T/C;G	snv	0.52; 1.2E-05	0.51	9
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs7582694	STAT4	0.763	0.400	2	191105394	intron variant	C/G	snv		0.77	9
rs2032487	MYH9	0.882	0.080	22	36299382	intron variant	C/T	snv		0.78	3
rs4821481	MYH9	1.000	0.080	22	36299896	intron variant	C/T	snv		0.78	1
rs4821480	MYH9	0.807	0.160	22	36299201	intron variant	G/T	snv		0.78	9