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rs62636505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62636505(C;C)
Make rs62636505(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956235
GeneNEFL
is asnp
is mentioned by
dbSNPrs62636505
dbSNP (classic)rs62636505
ClinGenrs62636505
ebirs62636505
HLIrs62636505
Exacrs62636505
Gnomadrs62636505
Varsomers62636505
LitVarrs62636505
Maprs62636505
PheGenIrs62636505
Biobankrs62636505
1000 genomesrs62636505
hgdprs62636505
ensemblrs62636505
geneviewrs62636505
scholarrs62636505
googlers62636505
pharmgkbrs62636505
gwascentralrs62636505
openSNPrs62636505
23andMers62636505
SNPshotrs62636505
SNPdbers62636505
MSV3drs62636505
GWAS Ctlgrs62636505
Max Magnitude0
OMIM162280
Desc
Variant0006
Relatedalso


ClinVar
Risk rs62636505(C;C)
Alt rs62636505(C;C)
Reference Rs62636505(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E not provided
Variation info
Gene NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E not provided
Reversed 1
HGVS NC_000008.10:g.24813749A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015078.22, RCV000057135.1,