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rs149335881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Friedreich's ataxia
(A;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69072674
GeneFXN
is asnp
is mentioned by
dbSNPrs149335881
ebirs149335881
HLIrs149335881
Exacrs149335881
Varsomers149335881
Maprs149335881
PheGenIrs149335881
hapmaprs149335881
1000 genomesrs149335881
hgdprs149335881
ensemblrs149335881
gopubmedrs149335881
geneviewrs149335881
scholarrs149335881
googlers149335881
pharmgkbrs149335881
gwascentralrs149335881
openSNPrs149335881
23andMers149335881
23andMe allrs149335881
SNP Nexus

SNPshotrs149335881
SNPdbers149335881
MSV3drs149335881
GWAS Ctlgrs149335881
Max Magnitude6
rs149335881, also known as c.545 T>A or p.L182H (isof. 1) p.S185T (isof. 2), 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 rs149335881(A;A)
Alt rs149335881(A;A)
Reference rs149335881(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687590T>A
CLNSRC
CLNACC


[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.