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rs147211454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;-) 3 carrier of a Friedreich's ataxia allele
(-;-) 6 Friedreich's ataxia
(GCAGACAAGCCAT;GCAGACAAGCCAT) 0 common in clinvar
Make rs147211454(-;GCAGACAAGCCAT)
ReferenceGRCh38 38.1/141
Chromosome9
Position69053216
GeneFXN
is asnp
is mentioned by
dbSNPrs147211454
ebirs147211454
HLIrs147211454
Exacrs147211454
Varsomers147211454
Maprs147211454
PheGenIrs147211454
hapmaprs147211454
1000 genomesrs147211454
hgdprs147211454
ensemblrs147211454
gopubmedrs147211454
geneviewrs147211454
scholarrs147211454
googlers147211454
pharmgkbrs147211454
gwascentralrs147211454
openSNPrs147211454
23andMers147211454
23andMe allrs147211454
SNP Nexus

SNPshotrs147211454
SNPdbers147211454
MSV3drs147211454
GWAS Ctlgrs147211454
Max Magnitude6
rs147211454, also known as c.340_352 del13 or p.A114TfsX15, 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 rs147211454(;)
Alt rs147211454(;)
Reference rs147211454(GCAGACAAGCCAT;GCAGACAAGCCAT)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668132_71668144delGCAGACAAGCCAT
CLNSRC
CLNACC


[PMID 10633132OA-icon.png] Prevalence of mitochondrial gene mutations among hearing impaired patients.