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rs74315501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7.5 Neurofibromatosis, type 2
Make rs74315501(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29673365
GeneNF2
is asnp
is mentioned by
dbSNPrs74315501
dbSNP (classic)rs74315501
ClinGenrs74315501
ebirs74315501
HLIrs74315501
Exacrs74315501
Gnomadrs74315501
Varsomers74315501
LitVarrs74315501
Maprs74315501
PheGenIrs74315501
Biobankrs74315501
1000 genomesrs74315501
hgdprs74315501
ensemblrs74315501
geneviewrs74315501
scholarrs74315501
googlers74315501
pharmgkbrs74315501
gwascentralrs74315501
openSNPrs74315501
23andMers74315501
SNPshotrs74315501
SNPdbers74315501
MSV3drs74315501
GWAS Ctlgrs74315501
Max Magnitude7.5
OMIM607379
Desc
Variant0012
Relatedalso
ClinVar
Risk rs74315501(T;T)
Alt rs74315501(T;T)
Reference Rs74315501(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30069354C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003454.2,