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rs786204002

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204002(C;C)
Make rs786204002(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position133369901
GeneECHS1
is asnp
is mentioned by
dbSNPrs786204002
ebirs786204002
HLIrs786204002
Exacrs786204002
Varsomers786204002
Maprs786204002
PheGenIrs786204002
hapmaprs786204002
1000 genomesrs786204002
hgdprs786204002
ensemblrs786204002
gopubmedrs786204002
geneviewrs786204002
scholarrs786204002
googlers786204002
pharmgkbrs786204002
gwascentralrs786204002
openSNPrs786204002
23andMers786204002
23andMe allrs786204002
SNP Nexus

SNPshotrs786204002
SNPdbers786204002
MSV3drs786204002
GWAS Ctlgrs786204002
Max Magnitude0
ClinVar
Risk rs786204002(C;C)
Alt rs786204002(C;C)
Reference rs786204002(G;G)
Significance Pathogenic
Disease Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Variation info
Gene ECHS1
CLNDBN Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Reversed 1
HGVS NC_000010.10:g.135183405C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167580.3,