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rs137852770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852770(C;T)
Make rs137852770(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26204150
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852770
ebirs137852770
HLIrs137852770
Exacrs137852770
Varsomers137852770
Maprs137852770
PheGenIrs137852770
hapmaprs137852770
1000 genomesrs137852770
hgdprs137852770
ensemblrs137852770
gopubmedrs137852770
geneviewrs137852770
scholarrs137852770
googlers137852770
pharmgkbrs137852770
gwascentralrs137852770
openSNPrs137852770
23andMers137852770
23andMe allrs137852770
SNP Nexus

SNPshotrs137852770
SNPdbers137852770
MSV3drs137852770
GWAS Ctlgrs137852770
Max Magnitude0
OMIM600890
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852770(T;T)
Alt rs137852770(T;T)
Reference rs137852770(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.26427019G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009268.4,