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rs149229839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Friedreich's ataxia
(A;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69065018
GeneFXN
is asnp
is mentioned by
dbSNPrs149229839
ebirs149229839
HLIrs149229839
Exacrs149229839
Varsomers149229839
Maprs149229839
PheGenIrs149229839
hapmaprs149229839
1000 genomesrs149229839
hgdprs149229839
ensemblrs149229839
gopubmedrs149229839
geneviewrs149229839
scholarrs149229839
googlers149229839
pharmgkbrs149229839
gwascentralrs149229839
openSNPrs149229839
23andMers149229839
23andMe allrs149229839
SNP Nexus

SNPshotrs149229839
SNPdbers149229839
MSV3drs149229839
GWAS Ctlgrs149229839
Max Magnitude6
rs149229839, also known as c.465 G>A or p.W155X, 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 rs149229839(A;A)
Alt rs149229839(A;A)
Reference rs149229839(G;G)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679934G>A
CLNSRC
CLNACC


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