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rs80338718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338718(C;C)
Make rs80338718(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position96193036
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338718
ebirs80338718
HLIrs80338718
Exacrs80338718
Varsomers80338718
Maprs80338718
PheGenIrs80338718
hapmaprs80338718
1000 genomesrs80338718
hgdprs80338718
ensemblrs80338718
gopubmedrs80338718
geneviewrs80338718
scholarrs80338718
googlers80338718
pharmgkbrs80338718
gwascentralrs80338718
openSNPrs80338718
23andMers80338718
23andMe allrs80338718
SNP Nexus

SNPshotrs80338718
SNPdbers80338718
MSV3drs80338718
GWAS Ctlgrs80338718
Max Magnitude0
ClinVar
Risk rs80338718(C;C)
Alt rs80338718(C;C)
Reference rs80338718(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.95822348C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020706.1,


[PMID 16059747] Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.