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rs74315503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7.5 Neurofibromatosis, type 2
Make rs74315503(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position29674882
GeneNF2
is asnp
is mentioned by
dbSNPrs74315503
dbSNP (classic)rs74315503
ClinGenrs74315503
ebirs74315503
HLIrs74315503
Exacrs74315503
Gnomadrs74315503
Varsomers74315503
LitVarrs74315503
Maprs74315503
PheGenIrs74315503
Biobankrs74315503
1000 genomesrs74315503
hgdprs74315503
ensemblrs74315503
geneviewrs74315503
scholarrs74315503
googlers74315503
pharmgkbrs74315503
gwascentralrs74315503
openSNPrs74315503
23andMers74315503
SNPshotrs74315503
SNPdbers74315503
MSV3drs74315503
GWAS Ctlgrs74315503
Max Magnitude7.5
OMIM607379
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74315503(A;A) rs74315503(T;T)
Alt rs74315503(A;A) rs74315503(T;T)
Reference Rs74315503(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30070871G>A; NC_000022.10:g.30070871G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000232242.2, RCV000003455.2,