rs149335881

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	6	Friedreich's ataxia
(A;T)	3	carrier of a Friedreich's ataxia allele
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

69072674

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs149335881
dbSNP (classic)	rs149335881
ClinGen	rs149335881
ebi	rs149335881
HLI	rs149335881
Exac	rs149335881
Gnomad	rs149335881
Varsome	rs149335881
LitVar	rs149335881
Map	rs149335881
PheGenI	rs149335881
Biobank	rs149335881
1000 genomes	rs149335881
hgdp	rs149335881
ensembl	rs149335881
geneview	rs149335881
scholar	rs149335881
google	rs149335881
pharmgkb	rs149335881
gwascentral	rs149335881
openSNP	rs149335881
23andMe	rs149335881
SNPshot	rs149335881
SNPdbe	rs149335881
MSV3d	rs149335881
GWAS Ctlg	rs149335881

Max Magnitude

6

rs149335881, also known as c.545 T>A or p.L182H (isof. 1) p.S185T (isof. 2), 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	Rs149335881(A;A)
Alt	Rs149335881(A;A)
Reference	Rs149335881(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687590T>A
CLNSRC
CLNACC

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