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rs1059111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1059111(A;T)
Make rs1059111(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position24952575
GeneNEFL
is asnp
is mentioned by
dbSNPrs1059111
dbSNP (classic)rs1059111
ClinGenrs1059111
ebirs1059111
HLIrs1059111
Exacrs1059111
Gnomadrs1059111
Varsomers1059111
LitVarrs1059111
Maprs1059111
PheGenIrs1059111
Biobankrs1059111
1000 genomesrs1059111
hgdprs1059111
ensemblrs1059111
geneviewrs1059111
scholarrs1059111
googlers1059111
pharmgkbrs1059111
gwascentralrs1059111
openSNPrs1059111
23andMers1059111
SNPshotrs1059111
SNPdbers1059111
MSV3drs1059111
GWAS Ctlgrs1059111
Max Magnitude0
? (A;A) (A;T) (T;T) 28


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


ClinVar
Risk rs1059111(T;T)
Alt rs1059111(T;T)
Reference Rs1059111(A;A)
Significance Non-pathogenic
Disease Charcot-Marie-Tooth
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth, Type 1
Reversed 1
HGVS NC_000008.10:g.24810088T>A
CLNSRC
CLNACC RCV000294023.1,