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rs146818694

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
Position69064991
GeneFXN
is asnp
is mentioned by
dbSNPrs146818694
ebirs146818694
HLIrs146818694
Exacrs146818694
Varsomers146818694
Maprs146818694
PheGenIrs146818694
hapmaprs146818694
1000 genomesrs146818694
hgdprs146818694
ensemblrs146818694
gopubmedrs146818694
geneviewrs146818694
scholarrs146818694
googlers146818694
pharmgkbrs146818694
gwascentralrs146818694
openSNPrs146818694
23andMers146818694
23andMe allrs146818694
SNP Nexus

SNPshotrs146818694
SNPdbers146818694
MSV3drs146818694
GWAS Ctlgrs146818694
Max Magnitude6
rs146818694, also known as c.438 C>G or p.N146K, 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 rs146818694(G;G)
Alt rs146818694(G;G)
Reference rs146818694(C;C)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679907C>G
CLNSRC
CLNACC


[PMID 15340363] Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.