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rs794727219

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727219(A;A)
Make rs794727219(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position26191482
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs794727219
ebirs794727219
HLIrs794727219
Exacrs794727219
Varsomers794727219
Maprs794727219
PheGenIrs794727219
hapmaprs794727219
1000 genomesrs794727219
hgdprs794727219
ensemblrs794727219
gopubmedrs794727219
geneviewrs794727219
scholarrs794727219
googlers794727219
pharmgkbrs794727219
gwascentralrs794727219
openSNPrs794727219
23andMers794727219
23andMe allrs794727219
SNP Nexus

SNPshotrs794727219
SNPdbers794727219
MSV3drs794727219
GWAS Ctlgrs794727219
Max Magnitude0
ClinVar
Risk rs794727219(A;A)
Alt rs794727219(A;A)
Reference rs794727219(G;G)
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.26414351C>T
CLNSRC
CLNACC RCV000175393.1, RCV000175394.1,