Rs104894161

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894161(C;T)
Make rs104894161(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813563
GeneEGR2
is asnp
is mentioned by
dbSNPrs104894161
Exacrs104894161
PheGenIrs104894161
nextbiors104894161
hapmaprs104894161
1000 genomesrs104894161
hgdprs104894161
ensemblrs104894161
gopubmedrs104894161
geneviewrs104894161
scholarrs104894161
googlers104894161
pharmgkbrs104894161
gwascentralrs104894161
openSNPrs104894161
23andMers104894161
23andMe allrs104894161
SNP Nexus

SNPshotrs104894161
SNPdbers104894161
MSV3drs104894161
Max Magnitude0
OMIM129010
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894161(T;T)
Alt rs104894161(T;T)
Reference rs104894161(C;C)
Significance Pathogenic
Disease Dejerine-sottas neuropathy Charcot-Marie-Tooth disease Dejerine-Sottas disease
Variation info
Gene EGR2
CLNDBN Dejerine-sottas neuropathy, autosomal dominant Charcot-Marie-Tooth disease, type ID Dejerine-Sottas disease
Reversed 1
HGVS NC_000010.10:g.64573323G>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000018236.26, RCV000018237.22, RCV000032120.1,