DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Glomerular Filtration Rate ×

Variants associated to the Gene: CPS1 ×

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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
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	25
rs715	CPS1	1.000	0.040	2	210678331	3 prime UTR variant	T/C	snv		0.28	10
rs7422339	CPS1	1.000	0.080	2	210675783	missense variant	C/A	snv			5