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

rs149284013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 6 Friedreich's ataxia


Make rs149284013(-;-)
ReferenceGRCh38 38.1/141
Chromosome9
Position69053173
GeneFXN
is asnp
is mentioned by
dbSNPrs149284013
ebirs149284013
HLIrs149284013
Exacrs149284013
Varsomers149284013
Maprs149284013
PheGenIrs149284013
hapmaprs149284013
1000 genomesrs149284013
hgdprs149284013
ensemblrs149284013
gopubmedrs149284013
geneviewrs149284013
scholarrs149284013
googlers149284013
pharmgkbrs149284013
gwascentralrs149284013
openSNPrs149284013
23andMers149284013
23andMe allrs149284013
SNP Nexus

SNPshotrs149284013
SNPdbers149284013
MSV3drs149284013
GWAS Ctlgrs149284013
Max Magnitude6
rs149284013, also known as c.296_297 insT or p.E100RfsX12, 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 rs149284013(T;T)
Alt rs149284013(T;T)
Reference rs149284013(;)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668089_71668090insT
CLNSRC
CLNACC


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