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rs140510894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;C) 3 carrier of a Friedreich's ataxia allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035886
GeneFXN
is asnp
is mentioned by
dbSNPrs140510894
ebirs140510894
HLIrs140510894
Exacrs140510894
Varsomers140510894
Maprs140510894
PheGenIrs140510894
hapmaprs140510894
1000 genomesrs140510894
hgdprs140510894
ensemblrs140510894
gopubmedrs140510894
geneviewrs140510894
scholarrs140510894
googlers140510894
pharmgkbrs140510894
gwascentralrs140510894
openSNPrs140510894
23andMers140510894
23andMe allrs140510894
SNP Nexus

SNPshotrs140510894
SNPdbers140510894
MSV3drs140510894
GWAS Ctlgrs140510894
Max Magnitude6
rs140510894, also known as c.104 delC or p.P35HfsX41, 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 rs140510894(;)
Alt rs140510894(;)
Reference rs140510894(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650802delC
CLNSRC
CLNACC


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