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rs121913132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913132(A;A)
Make rs121913132(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26263452
GeneHADHB
is asnp
is mentioned by
dbSNPrs121913132
ebirs121913132
HLIrs121913132
Exacrs121913132
Varsomers121913132
Maprs121913132
PheGenIrs121913132
hapmaprs121913132
1000 genomesrs121913132
hgdprs121913132
ensemblrs121913132
gopubmedrs121913132
geneviewrs121913132
scholarrs121913132
googlers121913132
pharmgkbrs121913132
gwascentralrs121913132
openSNPrs121913132
23andMers121913132
23andMe allrs121913132
SNP Nexus

SNPshotrs121913132
SNPdbers121913132
MSV3drs121913132
GWAS Ctlgrs121913132
Max Magnitude0
OMIM143450
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913132(A;A)
Alt rs121913132(A;A)
Reference rs121913132(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.26486320G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015970.26,