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rs147643987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147643987(A;C)
Make rs147643987(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position69035783
GeneFXN
is asnp
is mentioned by
dbSNPrs147643987
ebirs147643987
HLIrs147643987
Exacrs147643987
Varsomers147643987
Maprs147643987
PheGenIrs147643987
hapmaprs147643987
1000 genomesrs147643987
hgdprs147643987
ensemblrs147643987
gopubmedrs147643987
geneviewrs147643987
scholarrs147643987
googlers147643987
pharmgkbrs147643987
gwascentralrs147643987
openSNPrs147643987
23andMers147643987
23andMe allrs147643987
SNP Nexus

SNPshotrs147643987
SNPdbers147643987
MSV3drs147643987
GWAS Ctlgrs147643987
Max Magnitude0
ClinVar
Risk rs147643987(C;C)
Alt rs147643987(C;C)
Reference rs147643987(A;A)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71650699A>C
CLNSRC
CLNACC


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