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rs587776498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776498(C;T)
Make rs587776498(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position133373329
GeneECHS1, MIR3944
is asnp
is mentioned by
dbSNPrs587776498
ebirs587776498
HLIrs587776498
Exacrs587776498
Varsomers587776498
Maprs587776498
PheGenIrs587776498
hapmaprs587776498
1000 genomesrs587776498
hgdprs587776498
ensemblrs587776498
gopubmedrs587776498
geneviewrs587776498
scholarrs587776498
googlers587776498
pharmgkbrs587776498
gwascentralrs587776498
openSNPrs587776498
23andMers587776498
23andMe allrs587776498
SNP Nexus

SNPshotrs587776498
SNPdbers587776498
MSV3drs587776498
GWAS Ctlgrs587776498
Max Magnitude0
ClinVar
Risk rs587776498(T;T)
Alt rs587776498(T;T)
Reference rs587776498(C;C)
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.135186833G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144497.1, RCV000167582.3,