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rs267607538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607538(C;G)
Make rs267607538(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956451
GeneNEFL
is asnp
is mentioned by
dbSNPrs267607538
ebirs267607538
HLIrs267607538
Exacrs267607538
Varsomers267607538
Maprs267607538
PheGenIrs267607538
hapmaprs267607538
1000 genomesrs267607538
hgdprs267607538
ensemblrs267607538
gopubmedrs267607538
geneviewrs267607538
scholarrs267607538
googlers267607538
pharmgkbrs267607538
gwascentralrs267607538
openSNPrs267607538
23andMers267607538
23andMe allrs267607538
SNP Nexus

SNPshotrs267607538
SNPdbers267607538
MSV3drs267607538
GWAS Ctlgrs267607538
Max Magnitude0
ClinVar
Risk rs267607538(G;G)
Alt rs267607538(G;G)
Reference rs267607538(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease type 2E
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1f not provided Charcot-Marie-Tooth disease type 2E
Reversed 1
HGVS NC_000008.10:g.24813965G>C; NC_000008.10:g.24813965G>T
CLNSRC ClinVar Epithelial Biology GeneReviews
CLNACC RCV000034139.2, RCV000057145.1, RCV000205038.1,