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rs138034837

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
Position69072622
GeneFXN
is asnp
is mentioned by
dbSNPrs138034837
ebirs138034837
HLIrs138034837
Exacrs138034837
Varsomers138034837
Maprs138034837
PheGenIrs138034837
hapmaprs138034837
1000 genomesrs138034837
hgdprs138034837
ensemblrs138034837
gopubmedrs138034837
geneviewrs138034837
scholarrs138034837
googlers138034837
pharmgkbrs138034837
gwascentralrs138034837
openSNPrs138034837
23andMers138034837
23andMe allrs138034837
SNP Nexus

SNPshotrs138034837
SNPdbers138034837
MSV3drs138034837
GWAS Ctlgrs138034837
Max Magnitude6
rs138034837, also known as c.493 C>T or p.R165C, 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 rs138034837(T;T)
Alt rs138034837(T;T)
Reference rs138034837(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687538C>T
CLNSRC
CLNACC


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


[PMID 10766903OA-icon.png] Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.