Have questions? Visit https://www.reddit.com/r/SNPedia

rs149724959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035784
GeneFXN
is asnp
is mentioned by
dbSNPrs149724959
ebirs149724959
HLIrs149724959
Exacrs149724959
Varsomers149724959
Maprs149724959
PheGenIrs149724959
hapmaprs149724959
1000 genomesrs149724959
hgdprs149724959
ensemblrs149724959
gopubmedrs149724959
geneviewrs149724959
scholarrs149724959
googlers149724959
pharmgkbrs149724959
gwascentralrs149724959
openSNPrs149724959
23andMers149724959
23andMe allrs149724959
SNP Nexus

SNPshotrs149724959
SNPdbers149724959
MSV3drs149724959
GWAS Ctlgrs149724959
Max Magnitude6
rs149724959, also known as c.2 delT or p.M1S, 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 rs149724959(;)
Alt rs149724959(;)
Reference rs149724959(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650700delT
CLNSRC
CLNACC


[PMID 9150176OA-icon.png] Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.


[PMID 12112211] Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.