rs74315493

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	7.5	Neurofibromatosis, type 2
(T;T)	0	common in clinvar

Make rs74315493(C;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

29681468

Gene

NF2

is a	snp
is	mentioned by
dbSNP	rs74315493
dbSNP (classic)	rs74315493
ClinGen	rs74315493
ebi	rs74315493
HLI	rs74315493
Exac	rs74315493
Gnomad	rs74315493
Varsome	rs74315493
LitVar	rs74315493
Map	rs74315493
PheGenI	rs74315493
Biobank	rs74315493
1000 genomes	rs74315493
hgdp	rs74315493
ensembl	rs74315493
geneview	rs74315493
scholar	rs74315493
google	rs74315493
pharmgkb	rs74315493
gwascentral	rs74315493
openSNP	rs74315493
23andMe	rs74315493
SNPshot	rs74315493
SNPdbe	rs74315493
MSV3d	rs74315493
GWAS Ctlg	rs74315493

Max Magnitude

7.5

OMIM	607379
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315493(C;C)
Alt	rs74315493(C;C)
Reference	Rs74315493(T;T)
Significance	Pathogenic
Disease	Neurofibromatosis
Variation	info
Gene	NF2
CLNDBN	Neurofibromatosis, type 2
Reversed	0
HGVS	NC_000022.10:g.30077457T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003447.2,