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rs80338721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338721(C;T)
Make rs80338721(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position96184376
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338721
ebirs80338721
HLIrs80338721
Exacrs80338721
Varsomers80338721
Maprs80338721
PheGenIrs80338721
hapmaprs80338721
1000 genomesrs80338721
hgdprs80338721
ensemblrs80338721
gopubmedrs80338721
geneviewrs80338721
scholarrs80338721
googlers80338721
pharmgkbrs80338721
gwascentralrs80338721
openSNPrs80338721
23andMers80338721
23andMe allrs80338721
SNP Nexus

SNPshotrs80338721
SNPdbers80338721
MSV3drs80338721
GWAS Ctlgrs80338721
Max Magnitude0
ClinVar
Risk rs80338721(T;T)
Alt rs80338721(T;T)
Reference rs80338721(C;C)
Significance Pathogenic
Disease Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation info
Gene SLC25A13
CLNDBN Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed 1
HGVS NC_000007.13:g.95813688G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020698.1,


[PMID 18392553] Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.