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rs864309656

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309656(C;T)
Make rs864309656(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position133369905
GeneECHS1
is asnp
is mentioned by
dbSNPrs864309656
ebirs864309656
HLIrs864309656
Exacrs864309656
Varsomers864309656
Maprs864309656
PheGenIrs864309656
hapmaprs864309656
1000 genomesrs864309656
hgdprs864309656
ensemblrs864309656
gopubmedrs864309656
geneviewrs864309656
scholarrs864309656
googlers864309656
pharmgkbrs864309656
gwascentralrs864309656
openSNPrs864309656
23andMers864309656
23andMe allrs864309656
SNP Nexus

SNPshotrs864309656
SNPdbers864309656
MSV3drs864309656
GWAS Ctlgrs864309656
Max Magnitude0
ClinVar
Risk rs864309656(T;T)
Alt rs864309656(T;T)
Reference rs864309656(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.135183409G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203246.1,