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rs104894105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Friedreich's ataxia
(C;T) 3 carrier of a Friedreich's ataxia allele
(G;G) 6 Friedreich's ataxia
(G;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69053193
GeneFXN
is asnp
is mentioned by
dbSNPrs104894105
ebirs104894105
HLIrs104894105
Exacrs104894105
Varsomers104894105
Maprs104894105
PheGenIrs104894105
hapmaprs104894105
1000 genomesrs104894105
hgdprs104894105
ensemblrs104894105
gopubmedrs104894105
geneviewrs104894105
scholarrs104894105
googlers104894105
pharmgkbrs104894105
gwascentralrs104894105
openSNPrs104894105
23andMers104894105
23andMe allrs104894105
SNP Nexus

SNPshotrs104894105
SNPdbers104894105
MSV3drs104894105
GWAS Ctlgrs104894105
Max Magnitude6
rs104894105 is a mutation in the FXN gene on chromosome 9 associated with Friedreich's ataxia. It has 2 known minor alleles
  • c.317 T>C or p.L106S,
  • c.317 T>G or p.L106X
OMIM606829
Desc
Variant0002
Relatedalso
OMIM229300
Desc
Variant
Relatedalso
ClinVar
Risk rs104894105(C,G;C,G)
Alt rs104894105(C,G;C,G)
Reference rs104894105(T;T)
Significance Pathogenic
Disease Friedreich's ataxia
Variation info
Gene FXN
CLNDBN Friedreich's ataxia
Reversed 0
HGVS NC_000009.11:g.71668109T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004186.2,


[PMID 8596916] Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.


[PMID 9779809] Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.