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rs137852771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852771(C;T)
Make rs137852771(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26194581
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852771
ebirs137852771
HLIrs137852771
Exacrs137852771
Varsomers137852771
Maprs137852771
PheGenIrs137852771
hapmaprs137852771
1000 genomesrs137852771
hgdprs137852771
ensemblrs137852771
gopubmedrs137852771
geneviewrs137852771
scholarrs137852771
googlers137852771
pharmgkbrs137852771
gwascentralrs137852771
openSNPrs137852771
23andMers137852771
23andMe allrs137852771
SNP Nexus

SNPshotrs137852771
SNPdbers137852771
MSV3drs137852771
GWAS Ctlgrs137852771
Max Magnitude0
OMIM600890
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852771(T;T)
Alt rs137852771(T;T)
Reference rs137852771(C;C)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 1
HGVS NC_000002.11:g.26417450G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009271.5,