Rs104894159

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894159(C;T)
Make rs104894159(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813413
GeneEGR2
is asnp
is mentioned by
dbSNPrs104894159
PheGenIrs104894159
nextbiors104894159
hapmaprs104894159
1000 genomesrs104894159
hgdprs104894159
ensemblrs104894159
gopubmedrs104894159
geneviewrs104894159
scholarrs104894159
googlers104894159
pharmgkbrs104894159
gwascentralrs104894159
openSNPrs104894159
23andMers104894159
23andMe allrs104894159
SNP Nexus

SNPshotrs104894159
SNPdbers104894159
MSV3drs104894159
Max Magnitude0
OMIM129010
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894159(T;T)
Alt rs104894159(T;T)
Reference rs104894159(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene EGR2
CLNDBN Charcot-Marie-Tooth disease, type ID
Reversed 1
HGVS NC_000010.10:g.64573173G>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000018234.22,