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rs398123062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123062(A;G)
Make rs398123062(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position98875423
GeneFBXL4
is asnp
is mentioned by
dbSNPrs398123062
ebirs398123062
HLIrs398123062
Exacrs398123062
Varsomers398123062
Maprs398123062
PheGenIrs398123062
hapmaprs398123062
1000 genomesrs398123062
hgdprs398123062
ensemblrs398123062
gopubmedrs398123062
geneviewrs398123062
scholarrs398123062
googlers398123062
pharmgkbrs398123062
gwascentralrs398123062
openSNPrs398123062
23andMers398123062
23andMe allrs398123062
SNP Nexus

SNPshotrs398123062
SNPdbers398123062
MSV3drs398123062
GWAS Ctlgrs398123062
Max Magnitude0
ClinVar
Risk rs398123062(G;G)
Alt rs398123062(G;G)
Reference rs398123062(A;A)
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.99323299T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000056331.2,