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rs74315497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7.5 Neurofibromatosis, type 2
Make rs74315497(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29668405
GeneNF2
is asnp
is mentioned by
dbSNPrs74315497
dbSNP (classic)rs74315497
ClinGenrs74315497
ebirs74315497
HLIrs74315497
Exacrs74315497
Gnomadrs74315497
Varsomers74315497
LitVarrs74315497
Maprs74315497
PheGenIrs74315497
Biobankrs74315497
1000 genomesrs74315497
hgdprs74315497
ensemblrs74315497
geneviewrs74315497
scholarrs74315497
googlers74315497
pharmgkbrs74315497
gwascentralrs74315497
openSNPrs74315497
23andMers74315497
SNPshotrs74315497
SNPdbers74315497
MSV3drs74315497
GWAS Ctlgrs74315497
Max Magnitude7.5
OMIM607379
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315497(T;T)
Alt rs74315497(T;T)
Reference Rs74315497(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30064394C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003452.2,