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rs587776497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776497(G;G)
Make rs587776497(G;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position133373332
GeneECHS1, MIR3944
is asnp
is mentioned by
dbSNPrs587776497
ebirs587776497
HLIrs587776497
Exacrs587776497
Varsomers587776497
Maprs587776497
PheGenIrs587776497
hapmaprs587776497
1000 genomesrs587776497
hgdprs587776497
ensemblrs587776497
gopubmedrs587776497
geneviewrs587776497
scholarrs587776497
googlers587776497
pharmgkbrs587776497
gwascentralrs587776497
openSNPrs587776497
23andMers587776497
23andMe allrs587776497
SNP Nexus

SNPshotrs587776497
SNPdbers587776497
MSV3drs587776497
GWAS Ctlgrs587776497
Max Magnitude0
ClinVar
Risk rs587776497(G;G)
Alt rs587776497(G;G)
Reference rs587776497(T;T)
Significance Pathogenic
Disease Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Variation info
Gene ECHS1 MIR3944
CLNDBN Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Reversed 1
HGVS NC_000010.10:g.135186836A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144496.1, RCV000167581.3,