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rs397515570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515570(-;-)
Make rs397515570(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position230212971
GeneSP110
is asnp
is mentioned by
dbSNPrs397515570
ebirs397515570
HLIrs397515570
Exacrs397515570
Varsomers397515570
Maprs397515570
PheGenIrs397515570
hapmaprs397515570
1000 genomesrs397515570
hgdprs397515570
ensemblrs397515570
gopubmedrs397515570
geneviewrs397515570
scholarrs397515570
googlers397515570
pharmgkbrs397515570
gwascentralrs397515570
openSNPrs397515570
23andMers397515570
23andMe allrs397515570
SNP Nexus

SNPshotrs397515570
SNPdbers397515570
MSV3drs397515570
GWAS Ctlgrs397515570
Max Magnitude0
ClinVar
Risk rs397515570(;)
Alt rs397515570(;)
Reference rs397515570(A;A)
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.231077686delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055975.1,