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rs398123061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123061(C;T)
Make rs398123061(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position98875673
GeneFBXL4
is asnp
is mentioned by
dbSNPrs398123061
ebirs398123061
HLIrs398123061
Exacrs398123061
Varsomers398123061
Maprs398123061
PheGenIrs398123061
hapmaprs398123061
1000 genomesrs398123061
hgdprs398123061
ensemblrs398123061
gopubmedrs398123061
geneviewrs398123061
scholarrs398123061
googlers398123061
pharmgkbrs398123061
gwascentralrs398123061
openSNPrs398123061
23andMers398123061
23andMe allrs398123061
SNP Nexus

SNPshotrs398123061
SNPdbers398123061
MSV3drs398123061
GWAS Ctlgrs398123061
Max Magnitude0
ClinVar
Risk rs398123061(T;T)
Alt rs398123061(T;T)
Reference rs398123061(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Global developmental delay Mitochondrial encephalomyopathy not provided
Variation info
Gene FBXL4
CLNDBN Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Global developmental delay Mitochondrial encephalomyopathy not provided
Reversed 1
HGVS NC_000006.11:g.99323549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056330.2, RCV000162170.1, RCV000224233.1,