DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Renal tubular acidosis ×

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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
rs104894556	COX10	1.000	0.080	17	14159926	missense variant	C/G;T	snv	1.2E-05		1
rs753950876	PUS1			12	131941508	missense variant	C/T	snv	8.0E-06		1