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rs398123060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123060(C;C)
Make rs398123060(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position98874441
GeneFBXL4
is asnp
is mentioned by
dbSNPrs398123060
ebirs398123060
HLIrs398123060
Exacrs398123060
Varsomers398123060
Maprs398123060
PheGenIrs398123060
hapmaprs398123060
1000 genomesrs398123060
hgdprs398123060
ensemblrs398123060
gopubmedrs398123060
geneviewrs398123060
scholarrs398123060
googlers398123060
pharmgkbrs398123060
gwascentralrs398123060
openSNPrs398123060
23andMers398123060
23andMe allrs398123060
SNP Nexus

SNPshotrs398123060
SNPdbers398123060
MSV3drs398123060
GWAS Ctlgrs398123060
Max Magnitude0
ClinVar
Risk rs398123060(C;C)
Alt rs398123060(C;C)
Reference rs398123060(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Variation info
Gene FBXL4
CLNDBN Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Reversed 1
HGVS NC_000006.11:g.99322317C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056329.2,