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rs397515571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515571(-;-)
Make rs397515571(-;G)
Make rs397515571(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position230212345
GeneSP110
is asnp
is mentioned by
dbSNPrs397515571
ebirs397515571
HLIrs397515571
Exacrs397515571
Varsomers397515571
Maprs397515571
PheGenIrs397515571
hapmaprs397515571
1000 genomesrs397515571
hgdprs397515571
ensemblrs397515571
gopubmedrs397515571
geneviewrs397515571
scholarrs397515571
googlers397515571
pharmgkbrs397515571
gwascentralrs397515571
openSNPrs397515571
23andMers397515571
23andMe allrs397515571
SNP Nexus

SNPshotrs397515571
SNPdbers397515571
MSV3drs397515571
GWAS Ctlgrs397515571
Max Magnitude0
ClinVar
Risk rs397515571(G;G)
Alt rs397515571(G;G)
Reference rs397515571(;)
Significance Pathogenic
Disease Hepatic venoocclusive disease with immunodeficiency
Variation info
Gene SP110 LOC101928789
CLNDBN Hepatic venoocclusive disease with immunodeficiency
Reversed 1
HGVS NC_000002.11:g.231077061dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000055978.1,