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rs80338717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338717(A;A)
Make rs80338717(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position96193032
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338717
ebirs80338717
HLIrs80338717
Exacrs80338717
Varsomers80338717
Maprs80338717
PheGenIrs80338717
hapmaprs80338717
1000 genomesrs80338717
hgdprs80338717
ensemblrs80338717
gopubmedrs80338717
geneviewrs80338717
scholarrs80338717
googlers80338717
pharmgkbrs80338717
gwascentralrs80338717
openSNPrs80338717
23andMers80338717
23andMe allrs80338717
SNP Nexus

SNPshotrs80338717
SNPdbers80338717
MSV3drs80338717
GWAS Ctlgrs80338717
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338717(A;A)
Alt rs80338717(A;A)
Reference rs80338717(G;G)
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.95822344C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020707.1,


[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.