DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Melnick-Needles Syndrome ×

Variants associated to the Gene: FLNA ×

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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
rs137853312	FLNA	0.790	0.160	X	154360238	missense variant	G/A	snv		9.3E-06	1
rs137853317	FLNA	0.827	0.120	X	154367878	missense variant	G/A	snv			1
rs28935472	FLNA	1.000	0.080	X	154360233	missense variant	C/T	snv			1
rs80338837	FLNA	1.000	0.080	X	154360243	missense variant	G/T	snv			1