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rs75134564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs75134564(A;A)
Make rs75134564(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position41862656
GeneOXCT1
is asnp
is mentioned by
dbSNPrs75134564
ebirs75134564
HLIrs75134564
Exacrs75134564
Varsomers75134564
Maprs75134564
PheGenIrs75134564
hapmaprs75134564
1000 genomesrs75134564
hgdprs75134564
ensemblrs75134564
gopubmedrs75134564
geneviewrs75134564
scholarrs75134564
googlers75134564
pharmgkbrs75134564
gwascentralrs75134564
openSNPrs75134564
23andMers75134564
23andMe allrs75134564
SNP Nexus

SNPshotrs75134564
SNPdbers75134564
MSV3drs75134564
GWAS Ctlgrs75134564
GMAF0.003214
Max Magnitude0
OMIM601424
Desc
Variant0003
Relatedalso
ClinVar
Risk rs75134564(A;A)
Alt rs75134564(A;A)
Reference rs75134564(G;G)
Significance Pathogenic
Disease Succinyl-CoA acetoacetate transferase deficiency
Variation info
Gene OXCT1
CLNDBN Succinyl-CoA acetoacetate transferase deficiency
Reversed 0
HGVS NC_000005.9:g.41862758G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008643.3,