Rs104894160

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894160(G;T)
Make rs104894160(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position62813491
GeneEGR2
is asnp
is mentioned by
dbSNPrs104894160
Exacrs104894160
PheGenIrs104894160
nextbiors104894160
hapmaprs104894160
1000 genomesrs104894160
hgdprs104894160
ensemblrs104894160
gopubmedrs104894160
geneviewrs104894160
scholarrs104894160
googlers104894160
pharmgkbrs104894160
gwascentralrs104894160
openSNPrs104894160
23andMers104894160
23andMe allrs104894160
SNP Nexus

SNPshotrs104894160
SNPdbers104894160
MSV3drs104894160
OMIM129010
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894160(T;T)
Alt rs104894160(T;T)
Reference rs104894160(G;G)
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.64573251C>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000018235.26, RCV000032122.1,