rs138446138

Orientation

plus

Stabilized

plus

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

Make rs138446138(GTCA;TTG)

Make rs138446138(TTG;TTG)

Reference

GRCh38 38.1/141

Chromosome

9

Position

69046421

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs138446138
dbSNP (classic)	rs138446138
ClinGen	rs138446138
ebi	rs138446138
HLI	rs138446138
Exac	rs138446138
Gnomad	rs138446138
Varsome	rs138446138
LitVar	rs138446138
Map	rs138446138
PheGenI	rs138446138
Biobank	rs138446138
1000 genomes	rs138446138
hgdp	rs138446138
ensembl	rs138446138
geneview	rs138446138
scholar	rs138446138
google	rs138446138
pharmgkb	rs138446138
gwascentral	rs138446138
openSNP	rs138446138
23andMe	rs138446138
SNPshot	rs138446138
SNPdbe	rs138446138
MSV3d	rs138446138
GWAS Ctlg	rs138446138

Max Magnitude

6

rs138446138, also known as c.202_205 delGTCAinsTTG or p.V68LfsX8, 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	rs138446138(TTG;TTG)
Alt	rs138446138(TTG;TTG)
Reference	Rs138446138(GTCA;GTCA)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71661337_71661340delGTCAinsTTG
CLNSRC
CLNACC

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