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rs146948377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;A) 3 carrier of a Friedreich's ataxia allele
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69065038
GeneFXN
is asnp
is mentioned by
dbSNPrs146948377
ebirs146948377
HLIrs146948377
Exacrs146948377
Varsomers146948377
Maprs146948377
PheGenIrs146948377
hapmaprs146948377
1000 genomesrs146948377
hgdprs146948377
ensemblrs146948377
gopubmedrs146948377
geneviewrs146948377
scholarrs146948377
googlers146948377
pharmgkbrs146948377
gwascentralrs146948377
openSNPrs146948377
23andMers146948377
23andMe allrs146948377
SNP Nexus

SNPshotrs146948377
SNPdbers146948377
MSV3drs146948377
GWAS Ctlgrs146948377
Max Magnitude6
rs146948377, also known as c.482_+_3 delA 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 rs146948377(;)
Alt rs146948377(;)
Reference rs146948377(A;A)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679954delA
CLNSRC
CLNACC


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