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rs142133355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Friedreich's ataxia
(C;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035784
GeneFXN
is asnp
is mentioned by
dbSNPrs142133355
ebirs142133355
HLIrs142133355
Exacrs142133355
Varsomers142133355
Maprs142133355
PheGenIrs142133355
hapmaprs142133355
1000 genomesrs142133355
hgdprs142133355
ensemblrs142133355
gopubmedrs142133355
geneviewrs142133355
scholarrs142133355
googlers142133355
pharmgkbrs142133355
gwascentralrs142133355
openSNPrs142133355
23andMers142133355
23andMe allrs142133355
SNP Nexus

SNPshotrs142133355
SNPdbers142133355
MSV3drs142133355
GWAS Ctlgrs142133355
Max Magnitude6
rs142133355, also known as c.2 T>C or p.M1T, is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk rs142133355(C;C)
Alt rs142133355(C;C)
Reference rs142133355(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650700T>C
CLNSRC
CLNACC


[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.