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rs397515362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515362(-;-)
Make rs397515362(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position230216888
GeneSP110
is asnp
is mentioned by
dbSNPrs397515362
ebirs397515362
HLIrs397515362
Exacrs397515362
Varsomers397515362
Maprs397515362
PheGenIrs397515362
hapmaprs397515362
1000 genomesrs397515362
hgdprs397515362
ensemblrs397515362
gopubmedrs397515362
geneviewrs397515362
scholarrs397515362
googlers397515362
pharmgkbrs397515362
gwascentralrs397515362
openSNPrs397515362
23andMers397515362
23andMe allrs397515362
SNP Nexus

SNPshotrs397515362
SNPdbers397515362
MSV3drs397515362
GWAS Ctlgrs397515362
Max Magnitude0
ClinVar
Risk rs397515362(;)
Alt rs397515362(;)
Reference rs397515362(C;C)
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.231081603delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005876.4,