rs145854903

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035900

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs145854903
dbSNP (classic)	rs145854903
ClinGen	rs145854903
ebi	rs145854903
HLI	rs145854903
Exac	rs145854903
Gnomad	rs145854903
Varsome	rs145854903
LitVar	rs145854903
Map	rs145854903
PheGenI	rs145854903
Biobank	rs145854903
1000 genomes	rs145854903
hgdp	rs145854903
ensembl	rs145854903
geneview	rs145854903
scholar	rs145854903
google	rs145854903
pharmgkb	rs145854903
gwascentral	rs145854903
openSNP	rs145854903
23andMe	rs145854903
SNPshot	rs145854903
SNPdbe	rs145854903
MSV3d	rs145854903
GWAS Ctlg	rs145854903

Max Magnitude

6

rs145854903, also known as c.118 C>T or p.R40C, 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	Rs145854903(T;T)
Alt	Rs145854903(T;T)
Reference	Rs145854903(C;C)
Significance	Pathogenic
Disease	Cardiovascular phenotype
Variation	info
Gene	FXN
CLNDBN	Cardiovascular phenotype
Reversed	0
HGVS	NC_000009.11:g.71650816C>T
CLNSRC
CLNACC	RCV000253766.1,

[PMID 15936968] Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.