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rs80338726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80338726(-;-)
Make rs80338726(-;A)
Make rs80338726(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position96121696
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338726
ebirs80338726
HLIrs80338726
Exacrs80338726
Varsomers80338726
Maprs80338726
PheGenIrs80338726
hapmaprs80338726
1000 genomesrs80338726
hgdprs80338726
ensemblrs80338726
gopubmedrs80338726
geneviewrs80338726
scholarrs80338726
googlers80338726
pharmgkbrs80338726
gwascentralrs80338726
openSNPrs80338726
23andMers80338726
23andMe allrs80338726
SNP Nexus

SNPshotrs80338726
SNPdbers80338726
MSV3drs80338726
GWAS Ctlgrs80338726
Max Magnitude0
ClinVar
Risk rs80338726(A;A)
Alt rs80338726(A;A)
Reference rs80338726(;)
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.95751009dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006374.3, RCV000006375.3,


[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.