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rs121909300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909300(G;T)
Make rs121909300(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position41749579
GeneOXCT1
is asnp
is mentioned by
dbSNPrs121909300
ebirs121909300
HLIrs121909300
Exacrs121909300
Varsomers121909300
Maprs121909300
PheGenIrs121909300
hapmaprs121909300
1000 genomesrs121909300
hgdprs121909300
ensemblrs121909300
gopubmedrs121909300
geneviewrs121909300
scholarrs121909300
googlers121909300
pharmgkbrs121909300
gwascentralrs121909300
openSNPrs121909300
23andMers121909300
23andMe allrs121909300
SNP Nexus

SNPshotrs121909300
SNPdbers121909300
MSV3drs121909300
GWAS Ctlgrs121909300
Max Magnitude0
OMIM601424
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909300(T;T)
Alt rs121909300(T;T)
Reference rs121909300(G;G)
Significance Pathogenic
Disease Succinyl-CoA acetoacetate transferase deficiency
Variation info
Gene OXCT1
CLNDBN Succinyl-CoA acetoacetate transferase deficiency
Reversed 1
HGVS NC_000005.9:g.41749681C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008642.3,