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rs104894108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Friedreich's ataxia
(A;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 0 common in clinvar
(G;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69035785
GeneFXN
is asnp
is mentioned by
dbSNPrs104894108
ebirs104894108
HLIrs104894108
Exacrs104894108
Varsomers104894108
Maprs104894108
PheGenIrs104894108
hapmaprs104894108
1000 genomesrs104894108
hgdprs104894108
ensemblrs104894108
gopubmedrs104894108
geneviewrs104894108
scholarrs104894108
googlers104894108
pharmgkbrs104894108
gwascentralrs104894108
openSNPrs104894108
23andMers104894108
23andMe allrs104894108
SNP Nexus

SNPshotrs104894108
SNPdbers104894108
MSV3drs104894108
GWAS Ctlgrs104894108
Merged fromRs28942069
Max Magnitude6

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.

OMIM606829
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894108(A,T;A,T)
Alt rs104894108(A,T;A,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 RCV000004190.2,


[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 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.