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rs281865139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865139(A;A)
Make rs281865139(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813478
GeneEGR2
is asnp
is mentioned by
dbSNPrs281865139
ebirs281865139
HLIrs281865139
Exacrs281865139
Varsomers281865139
Maprs281865139
PheGenIrs281865139
hapmaprs281865139
1000 genomesrs281865139
hgdprs281865139
ensemblrs281865139
gopubmedrs281865139
geneviewrs281865139
scholarrs281865139
googlers281865139
pharmgkbrs281865139
gwascentralrs281865139
openSNPrs281865139
23andMers281865139
23andMe allrs281865139
SNP Nexus

SNPshotrs281865139
SNPdbers281865139
MSV3drs281865139
GWAS Ctlgrs281865139
Max Magnitude0
ClinVar
Risk rs281865139(A;A)
Alt rs281865139(A;A)
Reference rs281865139(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene EGR2
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1d
Reversed 1
HGVS NC_000010.10:g.64573238G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033902.2,