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rs569808959

From SNPedia

Orientationplus
Geno Mag Summary
(CATA;CATA) 0 common in clinvar
Make rs569808959(-;-)
Make rs569808959(-;CATA)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position96189372
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs569808959
ebirs569808959
HLIrs569808959
Exacrs569808959
Varsomers569808959
Maprs569808959
PheGenIrs569808959
hapmaprs569808959
1000 genomesrs569808959
hgdprs569808959
ensemblrs569808959
gopubmedrs569808959
geneviewrs569808959
scholarrs569808959
googlers569808959
pharmgkbrs569808959
gwascentralrs569808959
openSNPrs569808959
23andMers569808959
23andMe allrs569808959
SNP Nexus

SNPshotrs569808959
SNPdbers569808959
MSV3drs569808959
GWAS Ctlgrs569808959
Max Magnitude0
ClinVar
Risk rs569808959(;)
Alt rs569808959(;)
Reference rs569808959(CATA;CATA)
Significance 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.95818684_95818687delCATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006368.3,