Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909302(A;A)
Make rs121909302(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position41842690
GeneOXCT1
is asnp
is mentioned by
dbSNPrs121909302
ebirs121909302
HLIrs121909302
Exacrs121909302
Varsomers121909302
Maprs121909302
PheGenIrs121909302
hapmaprs121909302
1000 genomesrs121909302
hgdprs121909302
ensemblrs121909302
gopubmedrs121909302
geneviewrs121909302
scholarrs121909302
googlers121909302
pharmgkbrs121909302
gwascentralrs121909302
openSNPrs121909302
23andMers121909302
23andMe allrs121909302
SNP Nexus

SNPshotrs121909302
SNPdbers121909302
MSV3drs121909302
GWAS Ctlgrs121909302
Max Magnitude0
OMIM601424
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909302(A;A)
Alt rs121909302(A;A)
Reference rs121909302(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.41842792C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008645.3,