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rs121913134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913134(A;A)
Make rs121913134(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26285513
GeneHADHB
is asnp
is mentioned by
dbSNPrs121913134
ebirs121913134
HLIrs121913134
Exacrs121913134
Varsomers121913134
Maprs121913134
PheGenIrs121913134
hapmaprs121913134
1000 genomesrs121913134
hgdprs121913134
ensemblrs121913134
gopubmedrs121913134
geneviewrs121913134
scholarrs121913134
googlers121913134
pharmgkbrs121913134
gwascentralrs121913134
openSNPrs121913134
23andMers121913134
23andMe allrs121913134
SNP Nexus

SNPshotrs121913134
SNPdbers121913134
MSV3drs121913134
GWAS Ctlgrs121913134
Max Magnitude0
OMIM143450
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913134(A;A)
Alt rs121913134(A;A)
Reference rs121913134(G;G)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHB
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 0
HGVS NC_000002.11:g.26508381G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015972.23,