rs144610605

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

69072677

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs144610605
dbSNP (classic)	rs144610605
ClinGen	rs144610605
ebi	rs144610605
HLI	rs144610605
Exac	rs144610605
Gnomad	rs144610605
Varsome	rs144610605
LitVar	rs144610605
Map	rs144610605
PheGenI	rs144610605
Biobank	rs144610605
1000 genomes	rs144610605
hgdp	rs144610605
ensembl	rs144610605
geneview	rs144610605
scholar	rs144610605
google	rs144610605
pharmgkb	rs144610605
gwascentral	rs144610605
openSNP	rs144610605
23andMe	rs144610605
SNPshot	rs144610605
SNPdbe	rs144610605
MSV3d	rs144610605
GWAS Ctlg	rs144610605

Max Magnitude

6

rs144610605, also known as c.548_A>G or p.H183R (isof. 1) p.M186V (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	Rs144610605(G;G)
Alt	Rs144610605(G;G)
Reference	Rs144610605(A;A)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687593A>G
CLNSRC
CLNACC

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