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rs137852772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852772(C;C)
Make rs137852772(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26209840
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852772
ebirs137852772
HLIrs137852772
Exacrs137852772
Varsomers137852772
Maprs137852772
PheGenIrs137852772
hapmaprs137852772
1000 genomesrs137852772
hgdprs137852772
ensemblrs137852772
gopubmedrs137852772
geneviewrs137852772
scholarrs137852772
googlers137852772
pharmgkbrs137852772
gwascentralrs137852772
openSNPrs137852772
23andMers137852772
23andMe allrs137852772
SNP Nexus

SNPshotrs137852772
SNPdbers137852772
MSV3drs137852772
GWAS Ctlgrs137852772
Max Magnitude0
OMIM600890
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852772(C;C)
Alt rs137852772(C;C)
Reference rs137852772(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.26432709A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009273.4,