rs142133355

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035784

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs142133355
dbSNP (classic)	rs142133355
ClinGen	rs142133355
ebi	rs142133355
HLI	rs142133355
Exac	rs142133355
Gnomad	rs142133355
Varsome	rs142133355
LitVar	rs142133355
Map	rs142133355
PheGenI	rs142133355
Biobank	rs142133355
1000 genomes	rs142133355
hgdp	rs142133355
ensembl	rs142133355
geneview	rs142133355
scholar	rs142133355
google	rs142133355
pharmgkb	rs142133355
gwascentral	rs142133355
openSNP	rs142133355
23andMe	rs142133355
SNPshot	rs142133355
SNPdbe	rs142133355
MSV3d	rs142133355
GWAS Ctlg	rs142133355

Max Magnitude

6

rs142133355, also known as c.2 T>C or p.M1T, 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	Rs142133355(C;C)
Alt	Rs142133355(C;C)
Reference	Rs142133355(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650700T>C
CLNSRC
CLNACC

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