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rs137852774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852774(A;A)
Make rs137852774(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26214447
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852774
ebirs137852774
HLIrs137852774
Exacrs137852774
Varsomers137852774
Maprs137852774
PheGenIrs137852774
hapmaprs137852774
1000 genomesrs137852774
hgdprs137852774
ensemblrs137852774
gopubmedrs137852774
geneviewrs137852774
scholarrs137852774
googlers137852774
pharmgkbrs137852774
gwascentralrs137852774
openSNPrs137852774
23andMers137852774
23andMe allrs137852774
SNP Nexus

SNPshotrs137852774
SNPdbers137852774
MSV3drs137852774
GWAS Ctlgrs137852774
Max Magnitude0
OMIM600890
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852774(A;A)
Alt rs137852774(A;A)
Reference rs137852774(T;T)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 1
HGVS NC_000002.11:g.26437316A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009275.5,