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rs151206121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;TGGG) 3 carrier of a Friedreich's ataxia allele
(TGGG;TGGG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69053257
GeneFXN
is asnp
is mentioned by
dbSNPrs151206121
ebirs151206121
HLIrs151206121
Exacrs151206121
Varsomers151206121
Maprs151206121
PheGenIrs151206121
hapmaprs151206121
1000 genomesrs151206121
hgdprs151206121
ensemblrs151206121
gopubmedrs151206121
geneviewrs151206121
scholarrs151206121
googlers151206121
pharmgkbrs151206121
gwascentralrs151206121
openSNPrs151206121
23andMers151206121
23andMe allrs151206121
SNP Nexus

SNPshotrs151206121
SNPdbers151206121
MSV3drs151206121
GWAS Ctlgrs151206121
Max Magnitude6
rs151206121, also known as c.381_384 delTGGG_+_c.384_+_1__+_9 delGTACCTCTT or , is a mutation in the FXN gene on chromosome 9.

The deletion is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk rs151206121(;)
Alt rs151206121(;)
Reference rs151206121(TGGG;TGGG)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668173_71668176delTGGG
CLNSRC
CLNACC


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