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

rs138837292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035882
GeneFXN
is asnp
is mentioned by
dbSNPrs138837292
ebirs138837292
HLIrs138837292
Exacrs138837292
Varsomers138837292
Maprs138837292
PheGenIrs138837292
hapmaprs138837292
1000 genomesrs138837292
hgdprs138837292
ensemblrs138837292
gopubmedrs138837292
geneviewrs138837292
scholarrs138837292
googlers138837292
pharmgkbrs138837292
gwascentralrs138837292
openSNPrs138837292
23andMers138837292
23andMe allrs138837292
SNP Nexus

SNPshotrs138837292
SNPdbers138837292
MSV3drs138837292
GWAS Ctlgrs138837292
Max Magnitude6
rs138837292, also known as c.100 delG or p.A34PfsX42, 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 rs138837292(;)
Alt rs138837292(;)
Reference rs138837292(G;G)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650798delG
CLNSRC
CLNACC


[PMID 9339708] Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.