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rs397515569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515569(-;-)
Make rs397515569(-;GGTGCTT)
Make rs397515569(GGTGCTT;GGTGCTT)
ReferenceGRCh38 38.1/141
Chromosome2
Position230213018
GeneSP110
is asnp
is mentioned by
dbSNPrs397515569
ebirs397515569
HLIrs397515569
Exacrs397515569
Varsomers397515569
Maprs397515569
PheGenIrs397515569
hapmaprs397515569
1000 genomesrs397515569
hgdprs397515569
ensemblrs397515569
gopubmedrs397515569
geneviewrs397515569
scholarrs397515569
googlers397515569
pharmgkbrs397515569
gwascentralrs397515569
openSNPrs397515569
23andMers397515569
23andMe allrs397515569
SNP Nexus

SNPshotrs397515569
SNPdbers397515569
MSV3drs397515569
GWAS Ctlgrs397515569
Max Magnitude0
ClinVar
Risk rs397515569(GGTGCTT;GGTGCTT)
Alt rs397515569(GGTGCTT;GGTGCTT)
Reference rs397515569(;)
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.231077734_231077740dupAAGCACC
CLNSRC ClinVar GeneReviews
CLNACC RCV000055974.1,