DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Multiple congenital anomalies ×

Variants associated to the Gene: ATRX ×

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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
rs1557082399	ATRX	1.000		X	77593803	stop gained	C/T	snv			4
rs122445110	ATRX	0.882	0.200	X	77589902	missense variant	A/G	snv			3