Rs104894158

From SNPedia
Jump to: navigation, search

Orientationminus
is asnp
is mentioned by
dbSNPrs104894158
PheGenIrs104894158
nextbiors104894158
hapmaprs104894158
1000 genomesrs104894158
hgdprs104894158
ensemblrs104894158
gopubmedrs104894158
geneviewrs104894158
scholarrs104894158
googlers104894158
pharmgkbrs104894158
gwascentralrs104894158
openSNPrs104894158
23andMers104894158
23andMe allrs104894158
SNP Nexus

SNPshotrs104894158
SNPdbers104894158
MSV3drs104894158
GeneEGR2
Chromosome10
Orientationminus
Position62813835
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894158(A;A)
Make rs104894158(A;T)
OMIM129010
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894158(A;A)
Alt rs104894158(A;A)
Reference rs104894158(T;T)
Significance 5
Disease Neuropathy, Congenital hypomyelinating neuropathy
ClinVar info
Gene EGR2
CLNDBN Neuropathy, congenital hypomyelinating, autosomal recessive, Congenital hypomyelinating neuropathy
Reversed 1
CLNHGVS NC_000010.10:g.64573595A>T
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000018233.26, RCV000031897.1