Have questions? Visit https://www.reddit.com/r/SNPedia

rs148698100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69053230
GeneFXN
is asnp
is mentioned by
dbSNPrs148698100
ebirs148698100
HLIrs148698100
Exacrs148698100
Varsomers148698100
Maprs148698100
PheGenIrs148698100
hapmaprs148698100
1000 genomesrs148698100
hgdprs148698100
ensemblrs148698100
gopubmedrs148698100
geneviewrs148698100
scholarrs148698100
googlers148698100
pharmgkbrs148698100
gwascentralrs148698100
openSNPrs148698100
23andMers148698100
23andMe allrs148698100
SNP Nexus

SNPshotrs148698100
SNPdbers148698100
MSV3drs148698100
GWAS Ctlgrs148698100
Max Magnitude6
rs148698100, also known as c.354 C>G or p.Y118X, 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.

ClinVar
Risk rs148698100(G;G)
Alt rs148698100(G;G)
Reference rs148698100(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71668146C>G
CLNSRC
CLNACC


[PMID 9339708] Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.