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rs28928910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28928910(C;T)
Make rs28928910(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956452
GeneNEFL
is asnp
is mentioned by
dbSNPrs28928910
ebirs28928910
HLIrs28928910
Exacrs28928910
Varsomers28928910
Maprs28928910
PheGenIrs28928910
hapmaprs28928910
1000 genomesrs28928910
hgdprs28928910
ensemblrs28928910
gopubmedrs28928910
geneviewrs28928910
scholarrs28928910
googlers28928910
pharmgkbrs28928910
gwascentralrs28928910
openSNPrs28928910
23andMers28928910
23andMe allrs28928910
SNP Nexus

SNPshotrs28928910
SNPdbers28928910
MSV3drs28928910
GWAS Ctlgrs28928910
Max Magnitude0
OMIM162280
DescCharcot-Marie-Tooth disease, axonal, Type 2E
Variant0002
Relatedalso


ClinVar
Risk rs28928910(A,T;A,T)
Alt rs28928910(A,T;A,T)
Reference rs28928910(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E not provided Charcot-Marie-Tooth disease, type 1C Charcot-Marie-Tooth disease, demyelinating, type 1f
Reversed 1
HGVS NC_000008.10:g.24813966G>A; NC_000008.10:g.24813966G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015073.26, RCV000057144.1, RCV000194357.1, RCV000034138.2, RCV000057143.1,