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rs137852769

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852769(C;C)
Make rs137852769(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position26195184
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852769
ebirs137852769
HLIrs137852769
Exacrs137852769
Varsomers137852769
Maprs137852769
PheGenIrs137852769
hapmaprs137852769
1000 genomesrs137852769
hgdprs137852769
ensemblrs137852769
gopubmedrs137852769
geneviewrs137852769
scholarrs137852769
googlers137852769
pharmgkbrs137852769
gwascentralrs137852769
openSNPrs137852769
23andMers137852769
23andMe allrs137852769
SNP Nexus

SNPshotrs137852769
SNPdbers137852769
MSV3drs137852769
GWAS Ctlgrs137852769
GMAF0.0
Max Magnitude0
OMIM600890
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852769(C;C)
Alt rs137852769(C;C)
Reference rs137852769(G;G)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency Lchad deficiency with maternal acute fatty liver of pregnancy Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency Lchad deficiency with maternal acute fatty liver of pregnancy Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Reversed 1
HGVS NC_000002.11:g.26418053C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009266.5, RCV000009267.4, RCV000174836.1, RCV000185933.1,