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rs143232208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;TC) 3 carrier of a Friedreich's ataxia allele
(TC;TC) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69035793
GeneFXN
is asnp
is mentioned by
dbSNPrs143232208
ebirs143232208
HLIrs143232208
Exacrs143232208
Varsomers143232208
Maprs143232208
PheGenIrs143232208
hapmaprs143232208
1000 genomesrs143232208
hgdprs143232208
ensemblrs143232208
gopubmedrs143232208
geneviewrs143232208
scholarrs143232208
googlers143232208
pharmgkbrs143232208
gwascentralrs143232208
openSNPrs143232208
23andMers143232208
23andMe allrs143232208
SNP Nexus

SNPshotrs143232208
SNPdbers143232208
MSV3drs143232208
GWAS Ctlgrs143232208
Max Magnitude6
rs143232208, also known as c.11-12 delTC or p.L4RfsX88, 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 rs143232208(;)
Alt rs143232208(;)
Reference rs143232208(TC;TC)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650709_71650710delTC
CLNSRC
CLNACC


[PMID 15376485] Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.