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rs143396368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Friedreich's ataxia
(C;G) 3 carrier of a Friedreich's ataxia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69072623
GeneFXN
is asnp
is mentioned by
dbSNPrs143396368
ebirs143396368
HLIrs143396368
Exacrs143396368
Varsomers143396368
Maprs143396368
PheGenIrs143396368
hapmaprs143396368
1000 genomesrs143396368
hgdprs143396368
ensemblrs143396368
gopubmedrs143396368
geneviewrs143396368
scholarrs143396368
googlers143396368
pharmgkbrs143396368
gwascentralrs143396368
openSNPrs143396368
23andMers143396368
23andMe allrs143396368
SNP Nexus

SNPshotrs143396368
SNPdbers143396368
MSV3drs143396368
GWAS Ctlgrs143396368
Max Magnitude6
rs143396368, also known as c.494 G>C or p.R165P (isof. 1) p.V168L (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 rs143396368(C;C)
Alt rs143396368(C;C)
Reference rs143396368(G;G)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71687539G>C
CLNSRC
CLNACC


[PMID 10668723] Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.