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rs121913133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913133(A;A)
Make rs121913133(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26279244
GeneHADHB
is asnp
is mentioned by
dbSNPrs121913133
ebirs121913133
HLIrs121913133
Exacrs121913133
Varsomers121913133
Maprs121913133
PheGenIrs121913133
hapmaprs121913133
1000 genomesrs121913133
hgdprs121913133
ensemblrs121913133
gopubmedrs121913133
geneviewrs121913133
scholarrs121913133
googlers121913133
pharmgkbrs121913133
gwascentralrs121913133
openSNPrs121913133
23andMers121913133
23andMe allrs121913133
SNP Nexus

SNPshotrs121913133
SNPdbers121913133
MSV3drs121913133
GWAS Ctlgrs121913133
Max Magnitude0
OMIM143450
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913133(A;A)
Alt rs121913133(A;A)
Reference rs121913133(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.26502112G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015971.26,