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rs151340616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151340616(C;T)
Make rs151340616(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48862581
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs151340616
dbSNP (classic)rs151340616
ClinGenrs151340616
ebirs151340616
HLIrs151340616
Exacrs151340616
Gnomadrs151340616
Varsomers151340616
LitVarrs151340616
Maprs151340616
PheGenIrs151340616
Biobankrs151340616
1000 genomesrs151340616
hgdprs151340616
ensemblrs151340616
geneviewrs151340616
scholarrs151340616
googlers151340616
pharmgkbrs151340616
gwascentralrs151340616
openSNPrs151340616
23andMers151340616
SNPshotrs151340616
SNPdbers151340616
MSV3drs151340616
GWAS Ctlgrs151340616
Max Magnitude0
ClinVar
Risk rs151340616(T;T)
Alt rs151340616(T;T)
Reference Rs151340616(C;C)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency
Reversed 1
HGVS NC_000003.11:g.48900014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012918.3,