DisGeNET - a database of gene-disease associations

List of associated variants

Barber Say syndrome, C1319466

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
rs879254764	LDLR	0.827	0.360	19	11110752	frameshift variant	G/-	delins			7
rs1553565140	TWIST2 ; LOC100287387	0.925	0.240	2	238848438	missense variant	G/A;C	snv			3
rs1553565143	TWIST2 ; LOC100287387	1.000	0.240	2	238848439	missense variant	A/C	snv			1
rs869320750	TWIST2 ; LOC100287387	1.000	0.240	2	238848438	inframe insertion	-/CAGCGC	delins			1