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rs137852773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852773(A;A)
Make rs137852773(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26214516
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852773
ebirs137852773
HLIrs137852773
Exacrs137852773
Varsomers137852773
Maprs137852773
PheGenIrs137852773
hapmaprs137852773
1000 genomesrs137852773
hgdprs137852773
ensemblrs137852773
gopubmedrs137852773
geneviewrs137852773
scholarrs137852773
googlers137852773
pharmgkbrs137852773
gwascentralrs137852773
openSNPrs137852773
23andMers137852773
23andMe allrs137852773
SNP Nexus

SNPshotrs137852773
SNPdbers137852773
MSV3drs137852773
GWAS Ctlgrs137852773
Max Magnitude0
OMIM600890
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852773(A;A)
Alt rs137852773(A;A)
Reference rs137852773(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.26437385A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009274.4,