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rs74315504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7.5 Neurofibromatosis, type 2
Make rs74315504(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29674891
GeneNF2
is asnp
is mentioned by
dbSNPrs74315504
dbSNP (classic)rs74315504
ClinGenrs74315504
ebirs74315504
HLIrs74315504
Exacrs74315504
Gnomadrs74315504
Varsomers74315504
LitVarrs74315504
Maprs74315504
PheGenIrs74315504
Biobankrs74315504
1000 genomesrs74315504
hgdprs74315504
ensemblrs74315504
geneviewrs74315504
scholarrs74315504
googlers74315504
pharmgkbrs74315504
gwascentralrs74315504
openSNPrs74315504
23andMers74315504
SNPshotrs74315504
SNPdbers74315504
MSV3drs74315504
GWAS Ctlgrs74315504
Max Magnitude7.5
OMIM607379
Desc
Variant0014
Relatedalso
ClinVar
Risk rs74315504(G;G) rs74315504(T;T)
Alt rs74315504(G;G) rs74315504(T;T)
Reference Rs74315504(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30070880C>G; NC_000022.10:g.30070880C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000459035.1, RCV000003456.2,