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rs397515572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs397515572(AT;AT)
Make rs397515572(AT;CA)
ReferenceGRCh38 38.1/141
Chromosome2
Position230216849
GeneSP110
is asnp
is mentioned by
dbSNPrs397515572
ebirs397515572
HLIrs397515572
Exacrs397515572
Varsomers397515572
Maprs397515572
PheGenIrs397515572
hapmaprs397515572
1000 genomesrs397515572
hgdprs397515572
ensemblrs397515572
gopubmedrs397515572
geneviewrs397515572
scholarrs397515572
googlers397515572
pharmgkbrs397515572
gwascentralrs397515572
openSNPrs397515572
23andMers397515572
23andMe allrs397515572
SNP Nexus

SNPshotrs397515572
SNPdbers397515572
MSV3drs397515572
GWAS Ctlgrs397515572
Max Magnitude0
ClinVar
Risk rs397515572(AT;AT)
Alt rs397515572(AT;AT)
Reference rs397515572(CA;CA)
Significance Pathogenic
Disease Hepatic venoocclusive disease with immunodeficiency
Variation info
Gene SP110
CLNDBN Hepatic venoocclusive disease with immunodeficiency
Reversed 1
HGVS NC_000002.11:g.231081564_231081565delTGinsAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055979.1,