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rs141935559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 3 carrier of a Friedreich's ataxia allele
(C;C) 6 Friedreich's ataxia


Make rs141935559(-;-)
ReferenceGRCh38 38.1/141
Chromosome9
Position69035939
GeneFXN
is asnp
is mentioned by
dbSNPrs141935559
ebirs141935559
HLIrs141935559
Exacrs141935559
Varsomers141935559
Maprs141935559
PheGenIrs141935559
hapmaprs141935559
1000 genomesrs141935559
hgdprs141935559
ensemblrs141935559
gopubmedrs141935559
geneviewrs141935559
scholarrs141935559
googlers141935559
pharmgkbrs141935559
gwascentralrs141935559
openSNPrs141935559
23andMers141935559
23andMe allrs141935559
SNP Nexus

SNPshotrs141935559
SNPdbers141935559
MSV3drs141935559
GWAS Ctlgrs141935559
Max Magnitude6
rs141935559, also known as c.157 insC or p.R53PfsX40, 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 rs141935559(C;C)
Alt rs141935559(C;C)
Reference rs141935559(;)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650855dupC
CLNSRC
CLNACC


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