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rs80338716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338716(C;T)
Make rs80338716(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position96193102
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338716
ebirs80338716
HLIrs80338716
Exacrs80338716
Varsomers80338716
Maprs80338716
PheGenIrs80338716
hapmaprs80338716
1000 genomesrs80338716
hgdprs80338716
ensemblrs80338716
gopubmedrs80338716
geneviewrs80338716
scholarrs80338716
googlers80338716
pharmgkbrs80338716
gwascentralrs80338716
openSNPrs80338716
23andMers80338716
23andMe allrs80338716
SNP Nexus

SNPshotrs80338716
SNPdbers80338716
MSV3drs80338716
GWAS Ctlgrs80338716
Max Magnitude0
ClinVar
Risk rs80338716(T;T)
Alt rs80338716(T;T)
Reference rs80338716(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.95822414G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020705.1,


[PMID 15050970] Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.