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rs145045861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69053193
GeneFXN
is asnp
is mentioned by
dbSNPrs145045861
ebirs145045861
HLIrs145045861
Exacrs145045861
Varsomers145045861
Maprs145045861
PheGenIrs145045861
hapmaprs145045861
1000 genomesrs145045861
hgdprs145045861
ensemblrs145045861
gopubmedrs145045861
geneviewrs145045861
scholarrs145045861
googlers145045861
pharmgkbrs145045861
gwascentralrs145045861
openSNPrs145045861
23andMers145045861
23andMe allrs145045861
SNP Nexus

SNPshotrs145045861
SNPdbers145045861
MSV3drs145045861
GWAS Ctlgrs145045861
Max Magnitude6
rs145045861, also known as c.317 delT or p.L106X, 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 rs145045861(;)
Alt rs145045861(;)
Reference rs145045861(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668109delT
CLNSRC
CLNACC


[PMID 10633132OA-icon.png] Prevalence of mitochondrial gene mutations among hearing impaired patients.