rs138837292

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	6	Friedreich's ataxia
(-;G)	3	carrier of a Friedreich's ataxia allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035882

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs138837292
dbSNP (classic)	rs138837292
ClinGen	rs138837292
ebi	rs138837292
HLI	rs138837292
Exac	rs138837292
Gnomad	rs138837292
Varsome	rs138837292
LitVar	rs138837292
Map	rs138837292
PheGenI	rs138837292
Biobank	rs138837292
1000 genomes	rs138837292
hgdp	rs138837292
ensembl	rs138837292
geneview	rs138837292
scholar	rs138837292
google	rs138837292
pharmgkb	rs138837292
gwascentral	rs138837292
openSNP	rs138837292
23andMe	rs138837292
SNPshot	rs138837292
SNPdbe	rs138837292
MSV3d	rs138837292
GWAS Ctlg	rs138837292

Max Magnitude

6

rs138837292, also known as c.100 delG or p.A34PfsX42, 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
Alt
Reference	Rs138837292(G;G)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650798delG
CLNSRC
CLNACC

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