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rs74315505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7.5 Neurofibromatosis, type 2
Make rs74315505(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29681443
GeneNF2
is asnp
is mentioned by
dbSNPrs74315505
dbSNP (classic)rs74315505
ClinGenrs74315505
ebirs74315505
HLIrs74315505
Exacrs74315505
Gnomadrs74315505
Varsomers74315505
LitVarrs74315505
Maprs74315505
PheGenIrs74315505
Biobankrs74315505
1000 genomesrs74315505
hgdprs74315505
ensemblrs74315505
geneviewrs74315505
scholarrs74315505
googlers74315505
pharmgkbrs74315505
gwascentralrs74315505
openSNPrs74315505
23andMers74315505
SNPshotrs74315505
SNPdbers74315505
MSV3drs74315505
GWAS Ctlgrs74315505
Max Magnitude7.5
OMIM607379
Desc
Variant0015
Relatedalso
ClinVar
Risk rs74315505(T;T)
Alt rs74315505(T;T)
Reference Rs74315505(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30077432G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003457.2,