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

rs143340609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Friedreich's ataxia
(C;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69065020
GeneFXN
is asnp
is mentioned by
dbSNPrs143340609
ebirs143340609
HLIrs143340609
Exacrs143340609
Varsomers143340609
Maprs143340609
PheGenIrs143340609
hapmaprs143340609
1000 genomesrs143340609
hgdprs143340609
ensemblrs143340609
gopubmedrs143340609
geneviewrs143340609
scholarrs143340609
googlers143340609
pharmgkbrs143340609
gwascentralrs143340609
openSNPrs143340609
23andMers143340609
23andMe allrs143340609
SNP Nexus

SNPshotrs143340609
SNPdbers143340609
MSV3drs143340609
GWAS Ctlgrs143340609
Max Magnitude6
rs143340609, also known as c.467 T>C or p.L156P, 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 rs143340609(C;C)
Alt rs143340609(C;C)
Reference rs143340609(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679936T>C
CLNSRC
CLNACC


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