DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Global developmental delay ×

Variants associated to the Gene: ACTL6B ×

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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
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1060499738	ACTL6B	1.000		7	100647014	missense variant	C/T	snv		7.0E-06	2