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rs121913663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913663(G;T)
Make rs121913663(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956098
GeneNEFL
is asnp
is mentioned by
dbSNPrs121913663
ebirs121913663
HLIrs121913663
Exacrs121913663
Varsomers121913663
Maprs121913663
PheGenIrs121913663
hapmaprs121913663
1000 genomesrs121913663
hgdprs121913663
ensemblrs121913663
gopubmedrs121913663
geneviewrs121913663
scholarrs121913663
googlers121913663
pharmgkbrs121913663
gwascentralrs121913663
openSNPrs121913663
23andMers121913663
23andMe allrs121913663
SNP Nexus

SNPshotrs121913663
SNPdbers121913663
MSV3drs121913663
GWAS Ctlgrs121913663
Max Magnitude0
OMIM162280
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913663(A,T;A,T)
Alt rs121913663(A,T;A,T)
Reference rs121913663(G;G)
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.24813612C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015079.26, RCV000057137.1,