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rs61491953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61491953(C;G)
Make rs61491953(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position24956493
GeneNEFL
is asnp
is mentioned by
dbSNPrs61491953
ebirs61491953
HLIrs61491953
Exacrs61491953
Varsomers61491953
Maprs61491953
PheGenIrs61491953
hapmaprs61491953
1000 genomesrs61491953
hgdprs61491953
ensemblrs61491953
gopubmedrs61491953
geneviewrs61491953
scholarrs61491953
googlers61491953
pharmgkbrs61491953
gwascentralrs61491953
openSNPrs61491953
23andMers61491953
23andMe allrs61491953
SNP Nexus

SNPshotrs61491953
SNPdbers61491953
MSV3drs61491953
GWAS Ctlgrs61491953
Max Magnitude0
OMIM162280
Desc
Variant0003
Relatedalso


ClinVar
Risk rs61491953(A,G,T;A,G,T)
Alt rs61491953(A,G,T;A,G,T)
Reference rs61491953(C;C)
Significance Pathogenic
Disease not provided Charcot-Marie-Tooth disease type 2E
Variation info
Gene NEFL
CLNDBN not provided Charcot-Marie-Tooth disease type 2E
Reversed 1
HGVS NC_000008.10:g.24814007G>A; NC_000008.10:g.24814007G>C; NC_000008.10:g.24814007G>T
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000057132.1, RCV000057131.1, RCV000234847.1, RCV000057130.1,