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rs137852775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852775(C;T)
Make rs137852775(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26214490
GeneHADHA
is asnp
is mentioned by
dbSNPrs137852775
ebirs137852775
HLIrs137852775
Exacrs137852775
Varsomers137852775
Maprs137852775
PheGenIrs137852775
hapmaprs137852775
1000 genomesrs137852775
hgdprs137852775
ensemblrs137852775
gopubmedrs137852775
geneviewrs137852775
scholarrs137852775
googlers137852775
pharmgkbrs137852775
gwascentralrs137852775
openSNPrs137852775
23andMers137852775
23andMe allrs137852775
SNP Nexus

SNPshotrs137852775
SNPdbers137852775
MSV3drs137852775
GWAS Ctlgrs137852775
Max Magnitude0
OMIM600890
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852775(T;T)
Alt rs137852775(T;T)
Reference rs137852775(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.26437359G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009276.6,