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rs80338727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338727(G;T)
Make rs80338727(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position96121695
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338727
ebirs80338727
HLIrs80338727
Exacrs80338727
Varsomers80338727
Maprs80338727
PheGenIrs80338727
hapmaprs80338727
1000 genomesrs80338727
hgdprs80338727
ensemblrs80338727
gopubmedrs80338727
geneviewrs80338727
scholarrs80338727
googlers80338727
pharmgkbrs80338727
gwascentralrs80338727
openSNPrs80338727
23andMers80338727
23andMe allrs80338727
SNP Nexus

SNPshotrs80338727
SNPdbers80338727
MSV3drs80338727
GWAS Ctlgrs80338727
Max Magnitude0
ClinVar
Risk rs80338727(A,T;A,T)
Alt rs80338727(A,T;A,T)
Reference rs80338727(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.95751007C>A; NC_000007.13:g.95751007C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020703.1, RCV000020702.1,


[PMID 11793471] Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

[PMID 11793471] Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.