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rs144610605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 6 Friedreich's ataxia
ReferenceGRCh38 38.1/141
Chromosome9
Position69072677
GeneFXN
is asnp
is mentioned by
dbSNPrs144610605
ClinGenrs144610605
ebirs144610605
HLIrs144610605
Exacrs144610605
Varsomers144610605
Maprs144610605
PheGenIrs144610605
hapmaprs144610605
1000 genomesrs144610605
hgdprs144610605
ensemblrs144610605
gopubmedrs144610605
geneviewrs144610605
scholarrs144610605
googlers144610605
pharmgkbrs144610605
gwascentralrs144610605
openSNPrs144610605
23andMers144610605
23andMe allrs144610605
SNP Nexus

SNPshotrs144610605
SNPdbers144610605
MSV3drs144610605
GWAS Ctlgrs144610605
Max Magnitude6
rs144610605, also known as c.548_A>G or p.H183R (isof. 1) p.M186V (isof. 2), 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 Rs144610605(G;G)
Alt Rs144610605(G;G)
Reference Rs144610605(A;A)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687593A>G
CLNSRC
CLNACC


[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.