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rs60261494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs60261494(AG;AG)
Make rs60261494(AG;CC)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956493
GeneNEFL
is asnp
is mentioned by
dbSNPrs60261494
ebirs60261494
HLIrs60261494
Exacrs60261494
Varsomers60261494
Maprs60261494
PheGenIrs60261494
hapmaprs60261494
1000 genomesrs60261494
hgdprs60261494
ensemblrs60261494
gopubmedrs60261494
geneviewrs60261494
scholarrs60261494
googlers60261494
pharmgkbrs60261494
gwascentralrs60261494
openSNPrs60261494
23andMers60261494
23andMe allrs60261494
SNP Nexus

SNPshotrs60261494
SNPdbers60261494
MSV3drs60261494
GWAS Ctlgrs60261494
Max Magnitude0
ClinVar
Risk rs60261494(AG;AG)
Alt rs60261494(AG;AG)
Reference rs60261494(CC;CC)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease not provided
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, demyelinating, type 1f not provided
Reversed 1
HGVS NC_000008.10:g.24814007_24814008delGGinsCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015074.24, RCV000015075.26, RCV000057129.1,