rs150676454

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035952

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs150676454
dbSNP (classic)	rs150676454
ClinGen	rs150676454
ebi	rs150676454
HLI	rs150676454
Exac	rs150676454
Gnomad	rs150676454
Varsome	rs150676454
LitVar	rs150676454
Map	rs150676454
PheGenI	rs150676454
Biobank	rs150676454
1000 genomes	rs150676454
hgdp	rs150676454
ensembl	rs150676454
geneview	rs150676454
scholar	rs150676454
google	rs150676454
pharmgkb	rs150676454
gwascentral	rs150676454
openSNP	rs150676454
23andMe	rs150676454
SNPshot	rs150676454
SNPdbe	rs150676454
MSV3d	rs150676454
GWAS Ctlg	rs150676454

Max Magnitude

6

rs150676454, also known as c.165_+_5 G>C or , 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	Rs150676454(C;C)
Alt	Rs150676454(C;C)
Reference	Rs150676454(G;G)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650868G>C
CLNSRC
CLNACC

[PMID 10766903] Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.