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rs121909303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909303(A;A)
Make rs121909303(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position41842685
GeneOXCT1
is asnp
is mentioned by
dbSNPrs121909303
ebirs121909303
HLIrs121909303
Exacrs121909303
Varsomers121909303
Maprs121909303
PheGenIrs121909303
hapmaprs121909303
1000 genomesrs121909303
hgdprs121909303
ensemblrs121909303
gopubmedrs121909303
geneviewrs121909303
scholarrs121909303
googlers121909303
pharmgkbrs121909303
gwascentralrs121909303
openSNPrs121909303
23andMers121909303
23andMe allrs121909303
SNP Nexus

SNPshotrs121909303
SNPdbers121909303
MSV3drs121909303
GWAS Ctlgrs121909303
Max Magnitude0
OMIM601424
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909303(A;A)
Alt rs121909303(A;A)
Reference rs121909303(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.41842787C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008646.3,