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rs59443585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs59443585(A;C)
Make rs59443585(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position24955521
GeneMIR6841, NEFL
is asnp
is mentioned by
dbSNPrs59443585
dbSNP (classic)rs59443585
ClinGenrs59443585
ebirs59443585
HLIrs59443585
Exacrs59443585
Gnomadrs59443585
Varsomers59443585
LitVarrs59443585
Maprs59443585
PheGenIrs59443585
Biobankrs59443585
1000 genomesrs59443585
hgdprs59443585
ensemblrs59443585
geneviewrs59443585
scholarrs59443585
googlers59443585
pharmgkbrs59443585
gwascentralrs59443585
openSNPrs59443585
23andMers59443585
SNPshotrs59443585
SNPdbers59443585
MSV3drs59443585
GWAS Ctlgrs59443585
Max Magnitude0
OMIM162280
Desc
Variant0001
Relatedalso


ClinVar
Risk rs59443585(C;C)
Alt rs59443585(C;C)
Reference Rs59443585(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E not provided
Variation info
Gene MIR6841 NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E not provided
Reversed 1
HGVS NC_000008.10:g.24813035T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015072.25, RCV000057151.1,