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rs145854903

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
Position69035900
GeneFXN
is asnp
is mentioned by
dbSNPrs145854903
ebirs145854903
HLIrs145854903
Exacrs145854903
Varsomers145854903
Maprs145854903
PheGenIrs145854903
hapmaprs145854903
1000 genomesrs145854903
hgdprs145854903
ensemblrs145854903
gopubmedrs145854903
geneviewrs145854903
scholarrs145854903
googlers145854903
pharmgkbrs145854903
gwascentralrs145854903
openSNPrs145854903
23andMers145854903
23andMe allrs145854903
SNP Nexus

SNPshotrs145854903
SNPdbers145854903
MSV3drs145854903
GWAS Ctlgrs145854903
Max Magnitude6
rs145854903, also known as c.118 C>T or p.R40C, 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 rs145854903(T;T)
Alt rs145854903(T;T)
Reference rs145854903(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650816C>T
CLNSRC
CLNACC


[PMID 15936968] Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.