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rs199845488

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199845488(C;C)
Make rs199845488(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position230208012
GeneSP110, SP140
is asnp
is mentioned by
dbSNPrs199845488
ebirs199845488
HLIrs199845488
Exacrs199845488
Varsomers199845488
Maprs199845488
PheGenIrs199845488
hapmaprs199845488
1000 genomesrs199845488
hgdprs199845488
ensemblrs199845488
gopubmedrs199845488
geneviewrs199845488
scholarrs199845488
googlers199845488
pharmgkbrs199845488
gwascentralrs199845488
openSNPrs199845488
23andMers199845488
23andMe allrs199845488
SNP Nexus

SNPshotrs199845488
SNPdbers199845488
MSV3drs199845488
GWAS Ctlgrs199845488
Max Magnitude0
ClinVar
Risk rs199845488(A,C;A,C)
Alt rs199845488(A,C;A,C)
Reference rs199845488(T;T)
Significance Probable-Pathogenic
Disease Hepatic venoocclusive disease with immunodeficiency
Variation info
Gene SP110 LOC101928789
CLNDBN Hepatic venoocclusive disease with immunodeficiency
Reversed 0
HGVS NC_000002.11:g.231072727T>A
CLNSRC
CLNACC RCV000169676.1,