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rs398123059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123059(C;T)
Make rs398123059(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position98875562
GeneFBXL4
is asnp
is mentioned by
dbSNPrs398123059
ebirs398123059
HLIrs398123059
Exacrs398123059
Varsomers398123059
Maprs398123059
PheGenIrs398123059
hapmaprs398123059
1000 genomesrs398123059
hgdprs398123059
ensemblrs398123059
gopubmedrs398123059
geneviewrs398123059
scholarrs398123059
googlers398123059
pharmgkbrs398123059
gwascentralrs398123059
openSNPrs398123059
23andMers398123059
23andMe allrs398123059
SNP Nexus

SNPshotrs398123059
SNPdbers398123059
MSV3drs398123059
GWAS Ctlgrs398123059
Max Magnitude0
ClinVar
Risk rs398123059(T;T)
Alt rs398123059(T;T)
Reference rs398123059(C;C)
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.99323438G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056327.2,