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rs28930679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28930679(A;A)
Make rs28930679(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position230212397
GeneSP110, SP140
is asnp
is mentioned by
dbSNPrs28930679
dbSNP (old)rs28930679
ClinGenrs28930679
ebirs28930679
HLIrs28930679
Exacrs28930679
Varsomers28930679
Maprs28930679
PheGenIrs28930679
Biobankrs28930679
1000 genomesrs28930679
hgdprs28930679
ensemblrs28930679
gopubmedrs28930679
geneviewrs28930679
scholarrs28930679
googlers28930679
pharmgkbrs28930679
gwascentralrs28930679
openSNPrs28930679
23andMers28930679
23andMe allrs28930679
SNP Nexus

SNPshotrs28930679
SNPdbers28930679
MSV3drs28930679
GWAS Ctlgrs28930679
GMAF0.1703
Max Magnitude0

[PMID 21033425] [Study on relation between Sp110 gene polymorphism and tuberculosis genetic susceptibility of Chongqing Han People]


GET Evidence
SP110-A212V
aa_change Ala212Val
aa_change_short A212V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs28930679(A;A)
Alt rs28930679(A;A)
Reference Rs28930679(G;G)
Significance Non-pathogenic
Disease Hepatic venoocclusive disease with immunodeficiency not specified
Variation info
Gene SP110 LOC101928789
CLNDBN Hepatic venoocclusive disease with immunodeficiency not specified
Reversed 0
HGVS NC_000002.11:g.231077112G>A
CLNSRC
CLNACC RCV000293290.1, RCV000456057.1,