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rs281865140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865140(A;G)
Make rs281865140(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position24955515
GeneNEFL
is asnp
is mentioned by
dbSNPrs281865140
ebirs281865140
HLIrs281865140
Exacrs281865140
Varsomers281865140
Maprs281865140
PheGenIrs281865140
hapmaprs281865140
1000 genomesrs281865140
hgdprs281865140
ensemblrs281865140
gopubmedrs281865140
geneviewrs281865140
scholarrs281865140
googlers281865140
pharmgkbrs281865140
gwascentralrs281865140
openSNPrs281865140
23andMers281865140
23andMe allrs281865140
SNP Nexus

SNPshotrs281865140
SNPdbers281865140
MSV3drs281865140
GWAS Ctlgrs281865140
Max Magnitude0
ClinVar
Risk rs281865140(C,G;C,G)
Alt rs281865140(C,G;C,G)
Reference rs281865140(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E
Variation info
Gene MIR6841 NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E
Reversed 1
HGVS NC_000008.10:g.24813029T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034135.2,