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rs59101996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59101996(C;T)
Make rs59101996(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956070
GeneNEFL
is asnp
is mentioned by
dbSNPrs59101996
dbSNP (classic)rs59101996
ClinGenrs59101996
ebirs59101996
HLIrs59101996
Exacrs59101996
Gnomadrs59101996
Varsomers59101996
LitVarrs59101996
Maprs59101996
PheGenIrs59101996
Biobankrs59101996
1000 genomesrs59101996
hgdprs59101996
ensemblrs59101996
geneviewrs59101996
scholarrs59101996
googlers59101996
pharmgkbrs59101996
gwascentralrs59101996
openSNPrs59101996
23andMers59101996
SNPshotrs59101996
SNPdbers59101996
MSV3drs59101996
GWAS Ctlgrs59101996
Max Magnitude0
ClinVar
Risk rs59101996(T;T)
Alt rs59101996(T;T)
Reference Rs59101996(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1f not provided
Reversed 1
HGVS NC_000008.10:g.24813584G>A
CLNSRC ClinVar Epithelial Biology GeneReviews
CLNACC RCV000034137.2, RCV000057139.1,