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rs1060503667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 7.5 Neurofibromatosis, type 2
Make rs1060503667(G;G)
Chromosome22
Position29642270
GeneNF2
is asnp
is mentioned by
dbSNPrs1060503667
dbSNP (old)rs1060503667
ClinGenrs1060503667
ebirs1060503667
HLIrs1060503667
Exacrs1060503667
Gnomadrs1060503667
Varsomers1060503667
Maprs1060503667
PheGenIrs1060503667
Biobankrs1060503667
1000 genomesrs1060503667
hgdprs1060503667
ensemblrs1060503667
gopubmedrs1060503667
geneviewrs1060503667
scholarrs1060503667
googlers1060503667
pharmgkbrs1060503667
gwascentralrs1060503667
openSNPrs1060503667
23andMers1060503667
23andMe allrs1060503667
SNPshotrs1060503667
SNPdbers1060503667
MSV3drs1060503667
GWAS Ctlgrs1060503667
Max Magnitude7.5

NM_000268.3(NF2):c.432C>G (p.Tyr144Ter)

ClinVar
Risk rs1060503667(G;G)
Alt rs1060503667(G;G)
Reference Rs1060503667(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30038259C>G
CLNSRC
CLNACC RCV000462897.1,