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rs80338724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;G) 3 Carrier of a citrullinemia/citrin deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position96121997
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338724
dbSNP (old)rs80338724
ClinGenrs80338724
ebirs80338724
HLIrs80338724
Exacrs80338724
Varsomers80338724
Maprs80338724
PheGenIrs80338724
Biobankrs80338724
1000 genomesrs80338724
hgdprs80338724
ensemblrs80338724
gopubmedrs80338724
geneviewrs80338724
scholarrs80338724
googlers80338724
pharmgkbrs80338724
gwascentralrs80338724
openSNPrs80338724
23andMers80338724
23andMe allrs80338724
SNP Nexus

SNPshotrs80338724
SNPdbers80338724
MSV3drs80338724
GWAS Ctlgrs80338724
Max Magnitude5.7
ClinVar
Risk Rs80338724(A;A)
Alt Rs80338724(A;A)
Reference Rs80338724(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.95751309C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020699.1,


[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.