rs141526971

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69065037

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs141526971
dbSNP (classic)	rs141526971
ClinGen	rs141526971
ebi	rs141526971
HLI	rs141526971
Exac	rs141526971
Gnomad	rs141526971
Varsome	rs141526971
LitVar	rs141526971
Map	rs141526971
PheGenI	rs141526971
Biobank	rs141526971
1000 genomes	rs141526971
hgdp	rs141526971
ensembl	rs141526971
geneview	rs141526971
scholar	rs141526971
google	rs141526971
pharmgkb	rs141526971
gwascentral	rs141526971
openSNP	rs141526971
23andMe	rs141526971
SNPshot	rs141526971
SNPdbe	rs141526971
MSV3d	rs141526971
GWAS Ctlg	rs141526971

Max Magnitude

6

rs141526971, also known as c.482_+_2 T>G or , 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	Rs141526971(G;G)
Alt	Rs141526971(G;G)
Reference	Rs141526971(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71679953T>G
CLNSRC
CLNACC

[PMID 10732799] The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.