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rs2979704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2979704(C;T)
Make rs2979704(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position24951554
GeneNEFL
is asnp
is mentioned by
dbSNPrs2979704
dbSNP (classic)rs2979704
ClinGenrs2979704
ebirs2979704
HLIrs2979704
Exacrs2979704
Gnomadrs2979704
Varsomers2979704
LitVarrs2979704
Maprs2979704
PheGenIrs2979704
Biobankrs2979704
1000 genomesrs2979704
hgdprs2979704
ensemblrs2979704
geneviewrs2979704
scholarrs2979704
googlers2979704
pharmgkbrs2979704
gwascentralrs2979704
openSNPrs2979704
23andMers2979704
SNPshotrs2979704
SNPdbers2979704
MSV3drs2979704
GWAS Ctlgrs2979704
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 25312269OA-icon.png] Common genetic variants in NEFL influence gene expression and neuroblastoma risk


ClinVar
Risk rs2979704(T;T)
Alt rs2979704(T;T)
Reference Rs2979704(C;C)
Significance Non-pathogenic
Disease Charcot-Marie-Tooth
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth, Type 1
Reversed 0
HGVS NC_000008.10:g.24809067C>T
CLNSRC
CLNACC RCV000311138.1,