rs149229839

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69065018

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs149229839
dbSNP (classic)	rs149229839
ClinGen	rs149229839
ebi	rs149229839
HLI	rs149229839
Exac	rs149229839
Gnomad	rs149229839
Varsome	rs149229839
LitVar	rs149229839
Map	rs149229839
PheGenI	rs149229839
Biobank	rs149229839
1000 genomes	rs149229839
hgdp	rs149229839
ensembl	rs149229839
geneview	rs149229839
scholar	rs149229839
google	rs149229839
pharmgkb	rs149229839
gwascentral	rs149229839
openSNP	rs149229839
23andMe	rs149229839
SNPshot	rs149229839
SNPdbe	rs149229839
MSV3d	rs149229839
GWAS Ctlg	rs149229839

Max Magnitude

6

rs149229839, also known as c.465 G>A or p.W155X, 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	Rs149229839(A;A)
Alt	Rs149229839(A;A)
Reference	Rs149229839(G;G)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71679934G>A
CLNSRC
CLNACC

[PMID 10982187] Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.