DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Neurofibromatosis 2 ×

Variants associated to the Gene: NF2 ×

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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
rs121434261	NF2	1.000	0.160	22	29636821	missense variant	T/C	snv			1
rs74315492	NF2	1.000	0.160	22	29671905	missense variant	T/C	snv			1
rs74315493	NF2	1.000	0.160	22	29681468	missense variant	T/C	snv			1
rs74315494	NF2	1.000	0.160	22	29681477	missense variant	A/C	snv			1
rs74315503	NF2	0.925	0.200	22	29674882	stop gained	G/A;T	snv	9.6E-05		1
rs764441073	NF2	1.000	0.160	22	29671881	missense variant	C/T	snv	1.2E-05	4.2E-05	1
rs766974263	NF2	1.000	0.160	22	29673383	missense variant	A/G	snv	4.1E-06		1