rs104894107

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69064942

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs104894107
dbSNP (classic)	rs104894107
ClinGen	rs104894107
ebi	rs104894107
HLI	rs104894107
Exac	rs104894107
Gnomad	rs104894107
Varsome	rs104894107
LitVar	rs104894107
Map	rs104894107
PheGenI	rs104894107
Biobank	rs104894107
1000 genomes	rs104894107
hgdp	rs104894107
ensembl	rs104894107
geneview	rs104894107
scholar	rs104894107
google	rs104894107
pharmgkb	rs104894107
gwascentral	rs104894107
openSNP	rs104894107
23andMe	rs104894107
SNPshot	rs104894107
SNPdbe	rs104894107
MSV3d	rs104894107
GWAS Ctlg	rs104894107

Max Magnitude

6

rs104894107, also known as c.389G>T, p.Gly130Val or G130V, 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.

This SNP is referred to as i5003931 by 23andMe.

OMIM	606829
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894107(C;C) Rs104894107(T;T)
Alt	rs104894107(C;C) Rs104894107(T;T)
Reference	Rs104894107(G;G)
Significance	Pathogenic
Disease	Friedreich's ataxia
Variation	info
Gene	FXN
CLNDBN	Friedreich's ataxia
Reversed	0
HGVS	NC_000009.11:g.71679858G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004189.3,

[PMID 9150176] Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

[PMID 9700204] Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.