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rs80338729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338729(C;T)
Make rs80338729(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position96121683
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338729
ebirs80338729
HLIrs80338729
Exacrs80338729
Varsomers80338729
Maprs80338729
PheGenIrs80338729
hapmaprs80338729
1000 genomesrs80338729
hgdprs80338729
ensemblrs80338729
gopubmedrs80338729
geneviewrs80338729
scholarrs80338729
googlers80338729
pharmgkbrs80338729
gwascentralrs80338729
openSNPrs80338729
23andMers80338729
23andMe allrs80338729
SNP Nexus

SNPshotrs80338729
SNPdbers80338729
MSV3drs80338729
GWAS Ctlgrs80338729
Max Magnitude0
ClinVar
Risk rs80338729(T;T)
Alt rs80338729(T;T)
Reference rs80338729(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.95750995G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020704.1,


[PMID 11153906] Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.