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rs200017313

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200017313(C;C)
Make rs200017313(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position26212628
GeneHADHA
is asnp
is mentioned by
dbSNPrs200017313
ebirs200017313
HLIrs200017313
Exacrs200017313
Varsomers200017313
Maprs200017313
PheGenIrs200017313
hapmaprs200017313
1000 genomesrs200017313
hgdprs200017313
ensemblrs200017313
gopubmedrs200017313
geneviewrs200017313
scholarrs200017313
googlers200017313
pharmgkbrs200017313
gwascentralrs200017313
openSNPrs200017313
23andMers200017313
23andMe allrs200017313
SNP Nexus

SNPshotrs200017313
SNPdbers200017313
MSV3drs200017313
GWAS Ctlgrs200017313
Max Magnitude0
ClinVar
Risk rs200017313(C;C)
Alt rs200017313(C;C)
Reference rs200017313(T;T)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000002.11:g.26435497T>C
CLNSRC
CLNACC RCV000173655.1, RCV000173656.1, RCV000185930.1,