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rs121434563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434563(A;A)
Make rs121434563(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813404
GeneEGR2
is asnp
is mentioned by
dbSNPrs121434563
ebirs121434563
HLIrs121434563
Exacrs121434563
Varsomers121434563
Maprs121434563
PheGenIrs121434563
hapmaprs121434563
1000 genomesrs121434563
hgdprs121434563
ensemblrs121434563
gopubmedrs121434563
geneviewrs121434563
scholarrs121434563
googlers121434563
pharmgkbrs121434563
gwascentralrs121434563
openSNPrs121434563
23andMers121434563
23andMe allrs121434563
SNP Nexus

SNPshotrs121434563
SNPdbers121434563
MSV3drs121434563
GWAS Ctlgrs121434563
Max Magnitude0
OMIM129010
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434563(A;A)
Alt rs121434563(A;A)
Reference rs121434563(G;G)
Significance Pathogenic
Disease Dejerine-sottas neuropathy
Variation info
Gene EGR2
CLNDBN Dejerine-sottas neuropathy, autosomal dominant
Reversed 1
HGVS NC_000010.10:g.64573164C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018238.27,