rs146948377

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69065038

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs146948377
dbSNP (classic)	rs146948377
ClinGen	rs146948377
ebi	rs146948377
HLI	rs146948377
Exac	rs146948377
Gnomad	rs146948377
Varsome	rs146948377
LitVar	rs146948377
Map	rs146948377
PheGenI	rs146948377
Biobank	rs146948377
1000 genomes	rs146948377
hgdp	rs146948377
ensembl	rs146948377
geneview	rs146948377
scholar	rs146948377
google	rs146948377
pharmgkb	rs146948377
gwascentral	rs146948377
openSNP	rs146948377
23andMe	rs146948377
SNPshot	rs146948377
SNPdbe	rs146948377
MSV3d	rs146948377
GWAS Ctlg	rs146948377

Max Magnitude

6

rs146948377, also known as c.482_+_3 delA 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
Alt
Reference	Rs146948377(A;A)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71679954delA
CLNSRC
CLNACC

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