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rs281865138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865138(G;G)
Make rs281865138(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813492
GeneEGR2
is asnp
is mentioned by
dbSNPrs281865138
ebirs281865138
HLIrs281865138
Exacrs281865138
Varsomers281865138
Maprs281865138
PheGenIrs281865138
hapmaprs281865138
1000 genomesrs281865138
hgdprs281865138
ensemblrs281865138
gopubmedrs281865138
geneviewrs281865138
scholarrs281865138
googlers281865138
pharmgkbrs281865138
gwascentralrs281865138
openSNPrs281865138
23andMers281865138
23andMe allrs281865138
SNP Nexus

SNPshotrs281865138
SNPdbers281865138
MSV3drs281865138
GWAS Ctlgrs281865138
Max Magnitude0
ClinVar
Risk rs281865138(G;G)
Alt rs281865138(G;G)
Reference rs281865138(T;T)
Significance Pathogenic
Disease Neuropathy Congenital hypomyelinating neuropathy
Variation info
Gene EGR2
CLNDBN Neuropathy, congenital hypomyelinating, autosomal dominant Congenital hypomyelinating neuropathy
Reversed 1
HGVS NC_000010.10:g.64573252A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018235.27, RCV000032121.1,