Rs104894161

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Orientationminus
is asnp
is mentioned by
dbSNPrs104894161
PheGenIrs104894161
nextbiors104894161
hapmaprs104894161
1000 genomesrs104894161
hgdprs104894161
ensemblrs104894161
gopubmedrs104894161
geneviewrs104894161
scholarrs104894161
googlers104894161
pharmgkbrs104894161
gwascentralrs104894161
openSNPrs104894161
23andMers104894161
23andMe allrs104894161
SNP Nexus

SNPshotrs104894161
SNPdbers104894161
MSV3drs104894161
GeneEGR2
Chromosome10
Orientationminus
Position64573323
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894161(C;T)
Make rs104894161(T;T)
OMIM129010
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894161(T;T)
Alt rs104894161(T;T)
Reference rs104894161(C;C)
Significance 5
Disease Dejerine-sottas neuropathy, Charcot-Marie-Tooth disease, Dejerine-Sottas disease
ClinVar info
Gene EGR2
CLNDBN Dejerine-sottas neuropathy, autosomal dominant, Charcot-Marie-Tooth disease, type ID, Dejerine-Sottas disease
Reversed 1
CLNHGVS NC_000010.10:g.64573323G>A
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000018236.26, RCV000018237.22, RCV000032120.1