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rs74315492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315492(C;C)
Make rs74315492(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29671905
GeneNF2
is asnp
is mentioned by
dbSNPrs74315492
dbSNP (classic)rs74315492
ClinGenrs74315492
ebirs74315492
HLIrs74315492
Exacrs74315492
Gnomadrs74315492
Varsomers74315492
LitVarrs74315492
Maprs74315492
PheGenIrs74315492
Biobankrs74315492
1000 genomesrs74315492
hgdprs74315492
ensemblrs74315492
geneviewrs74315492
scholarrs74315492
googlers74315492
pharmgkbrs74315492
gwascentralrs74315492
openSNPrs74315492
23andMers74315492
SNPshotrs74315492
SNPdbers74315492
MSV3drs74315492
GWAS Ctlgrs74315492
Max Magnitude0
OMIM607379
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315492(C;C)
Alt rs74315492(C;C)
Reference Rs74315492(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30067894T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003443.2,