rs104894108

plus

Geno	Mag	Summary
(A;A)	6	Friedreich's ataxia
(A;G)	3	carrier of a Friedreich's ataxia allele
(A;T)	6	Friedreich's ataxia
(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

69035785

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs104894108
dbSNP (classic)	rs104894108
ClinGen	rs104894108
ebi	rs104894108
HLI	rs104894108
Exac	rs104894108
Gnomad	rs104894108
Varsome	rs104894108
LitVar	rs104894108
Map	rs104894108
PheGenI	rs104894108
Biobank	rs104894108
1000 genomes	rs104894108
hgdp	rs104894108
ensembl	rs104894108
geneview	rs104894108
scholar	rs104894108
google	rs104894108
pharmgkb	rs104894108
gwascentral	rs104894108
openSNP	rs104894108
23andMe	rs104894108
SNPshot	rs104894108
SNPdbe	rs104894108
MSV3d	rs104894108
GWAS Ctlg	rs104894108

Merged from

Rs28942069

Max Magnitude

6

rs104894108 is a mutation in the FXN gene on chromosome 9.

c.3 G>A or p.M1I is referred to as i4990164 by 23andMe.
c.3 G>T or p.M1I

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies.

OMIM	606829
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs104894108(A;A) Rs104894108(T;T)
Alt	Rs104894108(A;A) Rs104894108(T;T)
Reference	Rs104894108(G;G)
Significance	Pathogenic
Disease	Friedreich's ataxia
Variation	info
Gene	FXN
CLNDBN	Friedreich's ataxia
Reversed	0
HGVS	NC_000009.11:g.71650701G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004190.3,

[PMID 9090376] Frataxin fracas.

[PMID 9737785] Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.

[PMID 10913738] Mutation detection in an equivocal case of Friedreich's ataxia.