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rs201865375

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201865375(C;C)
Make rs201865375(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position133370670
GeneECHS1
is asnp
is mentioned by
dbSNPrs201865375
ebirs201865375
HLIrs201865375
Exacrs201865375
Varsomers201865375
Maprs201865375
PheGenIrs201865375
hapmaprs201865375
1000 genomesrs201865375
hgdprs201865375
ensemblrs201865375
gopubmedrs201865375
geneviewrs201865375
scholarrs201865375
googlers201865375
pharmgkbrs201865375
gwascentralrs201865375
openSNPrs201865375
23andMers201865375
23andMe allrs201865375
SNP Nexus

SNPshotrs201865375
SNPdbers201865375
MSV3drs201865375
GWAS Ctlgrs201865375
Max Magnitude0
ClinVar
Risk rs201865375(C;C)
Alt rs201865375(C;C)
Reference rs201865375(T;T)
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 0
HGVS NC_000010.10:g.135184174T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203238.1,