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rs104894106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69065013
GeneFXN
is asnp
is mentioned by
dbSNPrs104894106
ebirs104894106
HLIrs104894106
Exacrs104894106
Varsomers104894106
Maprs104894106
PheGenIrs104894106
hapmaprs104894106
1000 genomesrs104894106
hgdprs104894106
ensemblrs104894106
gopubmedrs104894106
geneviewrs104894106
scholarrs104894106
googlers104894106
pharmgkbrs104894106
gwascentralrs104894106
openSNPrs104894106
23andMers104894106
23andMe allrs104894106
SNP Nexus

SNPshotrs104894106
SNPdbers104894106
MSV3drs104894106
GWAS Ctlgrs104894106
Max Magnitude6
rs104894106, also known as c.460_A>T or p.I154F, 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 i5003932 by 23andMe.
OMIM606829
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894106(T;T)
Alt rs104894106(T;T)
Reference rs104894106(A;A)
Significance Pathogenic
Disease Friedreich's ataxia
Variation info
Gene FXN
CLNDBN Friedreich's ataxia
Reversed 0
HGVS NC_000009.11:g.71679929A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004188.2,


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


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