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rs786204001

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204001(A;A)
Make rs786204001(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position133368964
GeneECHS1
is asnp
is mentioned by
dbSNPrs786204001
ebirs786204001
HLIrs786204001
Exacrs786204001
Varsomers786204001
Maprs786204001
PheGenIrs786204001
hapmaprs786204001
1000 genomesrs786204001
hgdprs786204001
ensemblrs786204001
gopubmedrs786204001
geneviewrs786204001
scholarrs786204001
googlers786204001
pharmgkbrs786204001
gwascentralrs786204001
openSNPrs786204001
23andMers786204001
23andMe allrs786204001
SNP Nexus

SNPshotrs786204001
SNPdbers786204001
MSV3drs786204001
GWAS Ctlgrs786204001
Max Magnitude0
ClinVar
Risk rs786204001(A;A)
Alt rs786204001(A;A)
Reference rs786204001(C;C)
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.135182468G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167579.3,