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rs1060503670

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 7.5 Neurofibromatosis, type 2
Make rs1060503670(G;G)
Chromosome22
Position29655592
GeneNF2
is asnp
is mentioned by
dbSNPrs1060503670
dbSNP (old)rs1060503670
ClinGenrs1060503670
ebirs1060503670
HLIrs1060503670
Exacrs1060503670
Gnomadrs1060503670
Varsomers1060503670
Maprs1060503670
PheGenIrs1060503670
Biobankrs1060503670
1000 genomesrs1060503670
hgdprs1060503670
ensemblrs1060503670
gopubmedrs1060503670
geneviewrs1060503670
scholarrs1060503670
googlers1060503670
pharmgkbrs1060503670
gwascentralrs1060503670
openSNPrs1060503670
23andMers1060503670
23andMe allrs1060503670
SNPshotrs1060503670
SNPdbers1060503670
MSV3drs1060503670
GWAS Ctlgrs1060503670
Max Magnitude7.5

NM_000268.3(NF2):c.517-2A>G

ClinVar
Risk rs1060503670(G;G)
Alt rs1060503670(G;G)
Reference Rs1060503670(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF2
CLNDBN Neurofibromatosis, type 2
Reversed 0
HGVS NC_000022.10:g.30051581A>G
CLNSRC
CLNACC RCV000458184.1,