rs140472905

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69064996

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs140472905
dbSNP (classic)	rs140472905
ClinGen	rs140472905
ebi	rs140472905
HLI	rs140472905
Exac	rs140472905
Gnomad	rs140472905
Varsome	rs140472905
LitVar	rs140472905
Map	rs140472905
PheGenI	rs140472905
Biobank	rs140472905
1000 genomes	rs140472905
hgdp	rs140472905
ensembl	rs140472905
geneview	rs140472905
scholar	rs140472905
google	rs140472905
pharmgkb	rs140472905
gwascentral	rs140472905
openSNP	rs140472905
23andMe	rs140472905
SNPshot	rs140472905
SNPdbe	rs140472905
MSV3d	rs140472905
GWAS Ctlg	rs140472905

Max Magnitude

6

rs140472905, also known as c.443_A>G or p.Q148R, 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	Rs140472905(G;G)
Alt	Rs140472905(G;G)
Reference	Rs140472905(A;A)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71679912A>G
CLNSRC
CLNACC