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rs138491271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;C) 3 carrier of a Friedreich's ataxia allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035900
GeneFXN
is asnp
is mentioned by
dbSNPrs138491271
ebirs138491271
HLIrs138491271
Exacrs138491271
Varsomers138491271
Maprs138491271
PheGenIrs138491271
hapmaprs138491271
1000 genomesrs138491271
hgdprs138491271
ensemblrs138491271
gopubmedrs138491271
geneviewrs138491271
scholarrs138491271
googlers138491271
pharmgkbrs138491271
gwascentralrs138491271
openSNPrs138491271
23andMers138491271
23andMe allrs138491271
SNP Nexus

SNPshotrs138491271
SNPdbers138491271
MSV3drs138491271
GWAS Ctlgrs138491271
Max Magnitude6
rs138491271, also known as c.118 delC or p.R40VfsX36, 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 rs138491271(;)
Alt rs138491271(;)
Reference rs138491271(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650816delC
CLNSRC
CLNACC


[PMID 10982187] Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.