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rs794727198

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727198(C;T)
Make rs794727198(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position26192392
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs794727198
ebirs794727198
HLIrs794727198
Exacrs794727198
Varsomers794727198
Maprs794727198
PheGenIrs794727198
hapmaprs794727198
1000 genomesrs794727198
hgdprs794727198
ensemblrs794727198
gopubmedrs794727198
geneviewrs794727198
scholarrs794727198
googlers794727198
pharmgkbrs794727198
gwascentralrs794727198
openSNPrs794727198
23andMers794727198
23andMe allrs794727198
SNP Nexus

SNPshotrs794727198
SNPdbers794727198
MSV3drs794727198
GWAS Ctlgrs794727198
Max Magnitude0
ClinVar
Risk rs794727198(T;T)
Alt rs794727198(T;T)
Reference rs794727198(C;C)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Reversed 1
HGVS NC_000002.11:g.26415261G>A
CLNSRC
CLNACC RCV000175265.1, RCV000175266.1,