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rs150676454

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
Position69035952
GeneFXN
is asnp
is mentioned by
dbSNPrs150676454
ebirs150676454
HLIrs150676454
Exacrs150676454
Varsomers150676454
Maprs150676454
PheGenIrs150676454
hapmaprs150676454
1000 genomesrs150676454
hgdprs150676454
ensemblrs150676454
gopubmedrs150676454
geneviewrs150676454
scholarrs150676454
googlers150676454
pharmgkbrs150676454
gwascentralrs150676454
openSNPrs150676454
23andMers150676454
23andMe allrs150676454
SNP Nexus

SNPshotrs150676454
SNPdbers150676454
MSV3drs150676454
GWAS Ctlgrs150676454
Max Magnitude6
rs150676454, also known as c.165_+_5 G>C or , 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 rs150676454(C;C)
Alt rs150676454(C;C)
Reference rs150676454(G;G)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650868G>C
CLNSRC
CLNACC


[PMID 10766903OA-icon.png] Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.