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rs104894107

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome9
Position69064942
GeneFXN
is asnp
is mentioned by
dbSNPrs104894107
ebirs104894107
HLIrs104894107
Exacrs104894107
Varsomers104894107
Maprs104894107
PheGenIrs104894107
hapmaprs104894107
1000 genomesrs104894107
hgdprs104894107
ensemblrs104894107
gopubmedrs104894107
geneviewrs104894107
scholarrs104894107
googlers104894107
pharmgkbrs104894107
gwascentralrs104894107
openSNPrs104894107
23andMers104894107
23andMe allrs104894107
SNP Nexus

SNPshotrs104894107
SNPdbers104894107
MSV3drs104894107
GWAS Ctlgrs104894107
Max Magnitude6
rs104894107, also known as c.389 G>T or p.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.
OMIM606829
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894107(C,T;C,T)
Alt rs104894107(C,T;C,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
CLNACC RCV000004189.2,


[PMID 9150176OA-icon.png] 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.