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rs141526971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 6 Friedreich's ataxia
(G;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69065037
GeneFXN
is asnp
is mentioned by
dbSNPrs141526971
ebirs141526971
HLIrs141526971
Exacrs141526971
Varsomers141526971
Maprs141526971
PheGenIrs141526971
hapmaprs141526971
1000 genomesrs141526971
hgdprs141526971
ensemblrs141526971
gopubmedrs141526971
geneviewrs141526971
scholarrs141526971
googlers141526971
pharmgkbrs141526971
gwascentralrs141526971
openSNPrs141526971
23andMers141526971
23andMe allrs141526971
SNP Nexus

SNPshotrs141526971
SNPdbers141526971
MSV3drs141526971
GWAS Ctlgrs141526971
Max Magnitude6
rs141526971, also known as c.482_+_2 T>G or , 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 rs141526971(G;G)
Alt rs141526971(G;G)
Reference rs141526971(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679953T>G
CLNSRC
CLNACC


[PMID 10732799] The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.