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rs139149160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;G) 3 Carrier of a citrullinemia/citrin deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position96131829
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs139149160
dbSNP (old)rs139149160
ClinGenrs139149160
ebirs139149160
HLIrs139149160
Exacrs139149160
Gnomadrs139149160
Varsomers139149160
Maprs139149160
PheGenIrs139149160
Biobankrs139149160
1000 genomesrs139149160
hgdprs139149160
ensemblrs139149160
gopubmedrs139149160
geneviewrs139149160
scholarrs139149160
googlers139149160
pharmgkbrs139149160
gwascentralrs139149160
openSNPrs139149160
23andMers139149160
23andMe allrs139149160
SNP Nexus

SNPshotrs139149160
SNPdbers139149160
MSV3drs139149160
GWAS Ctlgrs139149160
Max Magnitude5.7
ClinVar
Risk Rs139149160(A;A)
Alt Rs139149160(A;A)
Reference Rs139149160(G;G)
Significance Probable-Pathogenic
Disease Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation info
Gene SLC25A13
CLNDBN Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed 0
HGVS NC_000007.13:g.95761141G>A
CLNSRC
CLNACC RCV000239389.1,