rs149284013

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69053173

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs149284013
dbSNP (classic)	rs149284013
ClinGen	rs149284013
ebi	rs149284013
HLI	rs149284013
Exac	rs149284013
Gnomad	rs149284013
Varsome	rs149284013
LitVar	rs149284013
Map	rs149284013
PheGenI	rs149284013
Biobank	rs149284013
1000 genomes	rs149284013
hgdp	rs149284013
ensembl	rs149284013
geneview	rs149284013
scholar	rs149284013
google	rs149284013
pharmgkb	rs149284013
gwascentral	rs149284013
openSNP	rs149284013
23andMe	rs149284013
SNPshot	rs149284013
SNPdbe	rs149284013
MSV3d	rs149284013
GWAS Ctlg	rs149284013

Max Magnitude

6

rs149284013, also known as c.296_297 insT or p.E100RfsX12, 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	Rs149284013(T;T)
Alt	Rs149284013(T;T)
Reference	Rs149284013(;)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668089_71668090insT
CLNSRC
CLNACC

[PMID 10982187] Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.