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rs74315499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7.5 Neurofibromatosis, type 2
Make rs74315499(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29671847
GeneNF2
is asnp
is mentioned by
dbSNPrs74315499
dbSNP (classic)rs74315499
ClinGenrs74315499
ebirs74315499
HLIrs74315499
Exacrs74315499
Gnomadrs74315499
Varsomers74315499
LitVarrs74315499
Maprs74315499
PheGenIrs74315499
Biobankrs74315499
1000 genomesrs74315499
hgdprs74315499
ensemblrs74315499
geneviewrs74315499
scholarrs74315499
googlers74315499
pharmgkbrs74315499
gwascentralrs74315499
openSNPrs74315499
23andMers74315499
SNPshotrs74315499
SNPdbers74315499
MSV3drs74315499
GWAS Ctlgrs74315499
Max Magnitude7.5
OMIM607379
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315499(T;T)
Alt rs74315499(T;T)
Reference Rs74315499(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30067836C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003453.2,