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rs139616452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69072673
GeneFXN
is asnp
is mentioned by
dbSNPrs139616452
ebirs139616452
HLIrs139616452
Exacrs139616452
Varsomers139616452
Maprs139616452
PheGenIrs139616452
hapmaprs139616452
1000 genomesrs139616452
hgdprs139616452
ensemblrs139616452
gopubmedrs139616452
geneviewrs139616452
scholarrs139616452
googlers139616452
pharmgkbrs139616452
gwascentralrs139616452
openSNPrs139616452
23andMers139616452
23andMe allrs139616452
SNP Nexus

SNPshotrs139616452
SNPdbers139616452
MSV3drs139616452
GWAS Ctlgrs139616452
Max Magnitude6
rs139616452, also known as c.544 C>T or p.L182F, 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 rs139616452(T;T)
Alt rs139616452(T;T)
Reference rs139616452(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687589C>T
CLNSRC
CLNACC


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