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rs121913131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913131(A;G)
Make rs121913131(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26279292
GeneHADHB
is asnp
is mentioned by
dbSNPrs121913131
ebirs121913131
HLIrs121913131
Exacrs121913131
Varsomers121913131
Maprs121913131
PheGenIrs121913131
hapmaprs121913131
1000 genomesrs121913131
hgdprs121913131
ensemblrs121913131
gopubmedrs121913131
geneviewrs121913131
scholarrs121913131
googlers121913131
pharmgkbrs121913131
gwascentralrs121913131
openSNPrs121913131
23andMers121913131
23andMe allrs121913131
SNP Nexus

SNPshotrs121913131
SNPdbers121913131
MSV3drs121913131
GWAS Ctlgrs121913131
Max Magnitude0
OMIM143450
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913131(G;G)
Alt rs121913131(G;G)
Reference rs121913131(A;A)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHB
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 0
HGVS NC_000002.11:g.26502160A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015969.22,