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rs140472905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69064996
GeneFXN
is asnp
is mentioned by
dbSNPrs140472905
ebirs140472905
HLIrs140472905
Exacrs140472905
Varsomers140472905
Maprs140472905
PheGenIrs140472905
hapmaprs140472905
1000 genomesrs140472905
hgdprs140472905
ensemblrs140472905
gopubmedrs140472905
geneviewrs140472905
scholarrs140472905
googlers140472905
pharmgkbrs140472905
gwascentralrs140472905
openSNPrs140472905
23andMers140472905
23andMe allrs140472905
SNP Nexus

SNPshotrs140472905
SNPdbers140472905
MSV3drs140472905
GWAS Ctlgrs140472905
Max Magnitude6
rs140472905, also known as c.443_A>G or p.Q148R, 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 rs140472905(G;G)
Alt rs140472905(G;G)
Reference rs140472905(A;A)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679912A>G
CLNSRC
CLNACC