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rs80338722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338722(A;A)
Make rs80338722(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position96184276
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338722
ebirs80338722
HLIrs80338722
Exacrs80338722
Varsomers80338722
Maprs80338722
PheGenIrs80338722
hapmaprs80338722
1000 genomesrs80338722
hgdprs80338722
ensemblrs80338722
gopubmedrs80338722
geneviewrs80338722
scholarrs80338722
googlers80338722
pharmgkbrs80338722
gwascentralrs80338722
openSNPrs80338722
23andMers80338722
23andMe allrs80338722
SNP Nexus

SNPshotrs80338722
SNPdbers80338722
MSV3drs80338722
GWAS Ctlgrs80338722
GMAF0.001377
Max Magnitude0
OMIM603859
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338722(A;A)
Alt rs80338722(A;A)
Reference rs80338722(G;G)
Significance Pathogenic
Disease Citrullinemia type II Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation info
Gene SLC25A13
CLNDBN Citrullinemia type II Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed 1
HGVS NC_000007.13:g.95813588C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006369.1, RCV000006370.2,


[PMID 10369257] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.


[PMID 11281457] Neonatal presentation of adult-onset type II citrullinemia.


[PMID 12424587] Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.