rs145045861

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69053193

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs145045861
dbSNP (classic)	rs145045861
ClinGen	rs145045861
ebi	rs145045861
HLI	rs145045861
Exac	rs145045861
Gnomad	rs145045861
Varsome	rs145045861
LitVar	rs145045861
Map	rs145045861
PheGenI	rs145045861
Biobank	rs145045861
1000 genomes	rs145045861
hgdp	rs145045861
ensembl	rs145045861
geneview	rs145045861
scholar	rs145045861
google	rs145045861
pharmgkb	rs145045861
gwascentral	rs145045861
openSNP	rs145045861
23andMe	rs145045861
SNPshot	rs145045861
SNPdbe	rs145045861
MSV3d	rs145045861
GWAS Ctlg	rs145045861

Max Magnitude

6

rs145045861, also known as c.317 delT or p.L106X, 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
Alt
Reference	Rs145045861(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668109delT
CLNSRC
CLNACC

[PMID 10633132] Prevalence of mitochondrial gene mutations among hearing impaired patients.