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

rs121909301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909301(A;A)
Make rs121909301(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position41803148
GeneOXCT1
is asnp
is mentioned by
dbSNPrs121909301
ebirs121909301
HLIrs121909301
Exacrs121909301
Varsomers121909301
Maprs121909301
PheGenIrs121909301
hapmaprs121909301
1000 genomesrs121909301
hgdprs121909301
ensemblrs121909301
gopubmedrs121909301
geneviewrs121909301
scholarrs121909301
googlers121909301
pharmgkbrs121909301
gwascentralrs121909301
openSNPrs121909301
23andMers121909301
23andMe allrs121909301
SNP Nexus

SNPshotrs121909301
SNPdbers121909301
MSV3drs121909301
GWAS Ctlgrs121909301
Max Magnitude0
OMIM601424
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909301(A;A)
Alt rs121909301(A;A)
Reference rs121909301(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.41803250C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008644.3,