DisGeNET - a database of gene-disease associations

List of associated variants

hypertensive nephropathy, C0848548

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs5030717	TLR4	0.807	0.240	9	117711556	intron variant	A/G	snv		0.13	9
rs5030718	TLR4	0.827	0.200	9	117713548	stop gained	G/A;T	snv	3.1E-03; 8.0E-06		8