rs140510894

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035886

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs140510894
dbSNP (classic)	rs140510894
ClinGen	rs140510894
ebi	rs140510894
HLI	rs140510894
Exac	rs140510894
Gnomad	rs140510894
Varsome	rs140510894
LitVar	rs140510894
Map	rs140510894
PheGenI	rs140510894
Biobank	rs140510894
1000 genomes	rs140510894
hgdp	rs140510894
ensembl	rs140510894
geneview	rs140510894
scholar	rs140510894
google	rs140510894
pharmgkb	rs140510894
gwascentral	rs140510894
openSNP	rs140510894
23andMe	rs140510894
SNPshot	rs140510894
SNPdbe	rs140510894
MSV3d	rs140510894
GWAS Ctlg	rs140510894

Max Magnitude

6

rs140510894, also known as c.104 delC or p.P35HfsX41, 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	Rs140510894(C;C)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650802delC
CLNSRC
CLNACC

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