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rs1060499612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499612(C;C)
Make rs1060499612(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position96208837
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs1060499612
dbSNP (classic)rs1060499612
ClinGenrs1060499612
ebirs1060499612
HLIrs1060499612
Exacrs1060499612
Gnomadrs1060499612
Varsomers1060499612
LitVarrs1060499612
Maprs1060499612
PheGenIrs1060499612
Biobankrs1060499612
1000 genomesrs1060499612
hgdprs1060499612
ensemblrs1060499612
geneviewrs1060499612
scholarrs1060499612
googlers1060499612
pharmgkbrs1060499612
gwascentralrs1060499612
openSNPrs1060499612
23andMers1060499612
23andMe allrs1060499612
SNPshotrs1060499612
SNPdbers1060499612
MSV3drs1060499612
GWAS Ctlgrs1060499612
Max Magnitude0
ClinVar
Risk rs1060499612(C;C)
Alt rs1060499612(C;C)
Reference Rs1060499612(G;G)
Significance Probable-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.95838149C>G
CLNSRC
CLNACC RCV000477873.1,