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rs144104124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(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
Position69072722
GeneFXN
is asnp
is mentioned by
dbSNPrs144104124
ebirs144104124
HLIrs144104124
Exacrs144104124
Varsomers144104124
Maprs144104124
PheGenIrs144104124
hapmaprs144104124
1000 genomesrs144104124
hgdprs144104124
ensemblrs144104124
gopubmedrs144104124
geneviewrs144104124
scholarrs144104124
googlers144104124
pharmgkbrs144104124
gwascentralrs144104124
openSNPrs144104124
23andMers144104124
23andMe allrs144104124
SNP Nexus

SNPshotrs144104124
SNPdbers144104124
MSV3drs144104124
GWAS Ctlgrs144104124
Max Magnitude6
rs144104124, also known as c.593 T>G or p.L198R, 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 rs144104124(G;G)
Alt rs144104124(G;G)
Reference rs144104124(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687638T>G
CLNSRC
CLNACC


[PMID 10874325] A novel missense mutation (L198R) in the Friedreich's ataxia gene.