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rs121909299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909299(C;G)
Make rs121909299(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position41805674
GeneOXCT1
is asnp
is mentioned by
dbSNPrs121909299
ebirs121909299
HLIrs121909299
Exacrs121909299
Varsomers121909299
Maprs121909299
PheGenIrs121909299
hapmaprs121909299
1000 genomesrs121909299
hgdprs121909299
ensemblrs121909299
gopubmedrs121909299
geneviewrs121909299
scholarrs121909299
googlers121909299
pharmgkbrs121909299
gwascentralrs121909299
openSNPrs121909299
23andMers121909299
23andMe allrs121909299
SNP Nexus

SNPshotrs121909299
SNPdbers121909299
MSV3drs121909299
GWAS Ctlgrs121909299
Max Magnitude0
OMIM601424
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909299(G;G)
Alt rs121909299(G;G)
Reference rs121909299(C;C)
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.41805776G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008641.3,