Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338715(A;A)
Make rs80338715(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position96321942
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338715
ebirs80338715
HLIrs80338715
Exacrs80338715
Varsomers80338715
Maprs80338715
PheGenIrs80338715
hapmaprs80338715
1000 genomesrs80338715
hgdprs80338715
ensemblrs80338715
gopubmedrs80338715
geneviewrs80338715
scholarrs80338715
googlers80338715
pharmgkbrs80338715
gwascentralrs80338715
openSNPrs80338715
23andMers80338715
23andMe allrs80338715
SNP Nexus

SNPshotrs80338715
SNPdbers80338715
MSV3drs80338715
GWAS Ctlgrs80338715
Max Magnitude0
ClinVar
Risk rs80338715(A;A)
Alt rs80338715(A;A)
Reference rs80338715(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.95951254C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020700.1,


[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.