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rs74315494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7.5 Neurofibromatosis, type 2
Make rs74315494(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position29681477
GeneNF2
is asnp
is mentioned by
dbSNPrs74315494
dbSNP (classic)rs74315494
ClinGenrs74315494
ebirs74315494
HLIrs74315494
Exacrs74315494
Gnomadrs74315494
Varsomers74315494
LitVarrs74315494
Maprs74315494
PheGenIrs74315494
Biobankrs74315494
1000 genomesrs74315494
hgdprs74315494
ensemblrs74315494
geneviewrs74315494
scholarrs74315494
googlers74315494
pharmgkbrs74315494
gwascentralrs74315494
openSNPrs74315494
23andMers74315494
SNPshotrs74315494
SNPdbers74315494
MSV3drs74315494
GWAS Ctlgrs74315494
Max Magnitude7.5
OMIM607379
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315494(C;C)
Alt rs74315494(C;C)
Reference Rs74315494(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30077466A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003448.2,