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rs28934589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28934589(A;G)
Make rs28934589(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48859097
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs28934589
ebirs28934589
HLIrs28934589
Exacrs28934589
Varsomers28934589
Maprs28934589
PheGenIrs28934589
hapmaprs28934589
1000 genomesrs28934589
hgdprs28934589
ensemblrs28934589
gopubmedrs28934589
geneviewrs28934589
scholarrs28934589
googlers28934589
pharmgkbrs28934589
gwascentralrs28934589
openSNPrs28934589
23andMers28934589
23andMe allrs28934589
SNP Nexus

SNPshotrs28934589
SNPdbers28934589
MSV3drs28934589
GWAS Ctlgrs28934589
Max Magnitude0
OMIM212138
DescCARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Variant0007
Relatedalso


ClinVar
Risk rs28934589(G;G)
Alt rs28934589(G;G)
Reference rs28934589(A;A)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency not provided
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency not provided
Reversed 1
HGVS NC_000003.11:g.48896530T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012921.3, RCV000153966.3,