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rs121434261

From SNPedia

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


Make rs121434261(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position29636821
GeneNF2
is asnp
is mentioned by
dbSNPrs121434261
dbSNP (classic)rs121434261
ClinGenrs121434261
ebirs121434261
HLIrs121434261
Exacrs121434261
Gnomadrs121434261
Varsomers121434261
LitVarrs121434261
Maprs121434261
PheGenIrs121434261
Biobankrs121434261
1000 genomesrs121434261
hgdprs121434261
ensemblrs121434261
geneviewrs121434261
scholarrs121434261
googlers121434261
pharmgkbrs121434261
gwascentralrs121434261
openSNPrs121434261
23andMers121434261
SNPshotrs121434261
SNPdbers121434261
MSV3drs121434261
GWAS Ctlgrs121434261
Max Magnitude7.5
OMIM607379
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121434261(C;C)
Alt rs121434261(C;C)
Reference Rs121434261(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30032810T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003458.2,