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rs142157346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69053240
GeneFXN
is asnp
is mentioned by
dbSNPrs142157346
ebirs142157346
HLIrs142157346
Exacrs142157346
Varsomers142157346
Maprs142157346
PheGenIrs142157346
hapmaprs142157346
1000 genomesrs142157346
hgdprs142157346
ensemblrs142157346
gopubmedrs142157346
geneviewrs142157346
scholarrs142157346
googlers142157346
pharmgkbrs142157346
gwascentralrs142157346
openSNPrs142157346
23andMers142157346
23andMe allrs142157346
SNP Nexus

SNPshotrs142157346
SNPdbers142157346
MSV3drs142157346
GWAS Ctlgrs142157346
Max Magnitude6
rs142157346, also known as c.364 G>T or p.D122Y, 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 rs142157346(T;T)
Alt rs142157346(T;T)
Reference rs142157346(G;G)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668156G>T
CLNSRC
CLNACC


[PMID 9339708] Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.