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rs9061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9061(A;A)
Make rs9061(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position230212395
GeneSP110, SP140
is asnp
is mentioned by
dbSNPrs9061
dbSNP (old)rs9061
ClinGenrs9061
ebirs9061
HLIrs9061
Exacrs9061
Varsomers9061
Maprs9061
PheGenIrs9061
Biobankrs9061
1000 genomesrs9061
hgdprs9061
ensemblrs9061
gopubmedrs9061
geneviewrs9061
scholarrs9061
googlers9061
pharmgkbrs9061
gwascentralrs9061
openSNPrs9061
23andMers9061
23andMe allrs9061
SNP Nexus

SNPshotrs9061
SNPdbers9061
MSV3drs9061
GWAS Ctlgrs9061
GMAF0.1157
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 21033425] [Study on relation between Sp110 gene polymorphism and tuberculosis genetic susceptibility of Chongqing Han People]


[PMID 16803959OA-icon.png] Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.


[PMID 22691368] SP110 gene polymorphisms and tuberculosis susceptibility: A systematic review and meta-analysis based on 10 624 subjects.


GET Evidence
SP110-E207K
aa_change Glu207Lys
aa_change_short E207K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0885852
summary



[PMID 23129390] Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population


[PMID 27873510OA-icon.png] Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis.


ClinVar
Risk rs9061(A;A)
Alt rs9061(A;A)
Reference Rs9061(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 1
HGVS NC_000002.11:g.231077110C>T
CLNSRC
CLNACC RCV000350537.1, RCV000455434.1,