rs146818694

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69064991

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs146818694
dbSNP (classic)	rs146818694
ClinGen	rs146818694
ebi	rs146818694
HLI	rs146818694
Exac	rs146818694
Gnomad	rs146818694
Varsome	rs146818694
LitVar	rs146818694
Map	rs146818694
PheGenI	rs146818694
Biobank	rs146818694
1000 genomes	rs146818694
hgdp	rs146818694
ensembl	rs146818694
geneview	rs146818694
scholar	rs146818694
google	rs146818694
pharmgkb	rs146818694
gwascentral	rs146818694
openSNP	rs146818694
23andMe	rs146818694
SNPshot	rs146818694
SNPdbe	rs146818694
MSV3d	rs146818694
GWAS Ctlg	rs146818694

Max Magnitude

6

rs146818694, also known as c.438 C>G or p.N146K, 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	Rs146818694(G;G)
Alt	Rs146818694(G;G)
Reference	Rs146818694(C;C)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71679907C>G
CLNSRC
CLNACC

[PMID 15340363] Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.