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rs3948464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs3948464(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position230185999
GeneSP110
is asnp
is mentioned by
dbSNPrs3948464
ebirs3948464
HLIrs3948464
Exacrs3948464
Varsomers3948464
Maprs3948464
PheGenIrs3948464
hapmaprs3948464
1000 genomesrs3948464
hgdprs3948464
ensemblrs3948464
gopubmedrs3948464
geneviewrs3948464
scholarrs3948464
googlers3948464
pharmgkbrs3948464
gwascentralrs3948464
openSNPrs3948464
23andMers3948464
23andMe allrs3948464
SNP Nexus

SNPshotrs3948464
SNPdbers3948464
MSV3drs3948464
GWAS Ctlgrs3948464
GMAF0.1028
Max Magnitude0
? (C;C) (C;T) (T;T) 28

associated with genetic susceptibility to tuberculosis in West Africa

OMIM607948
DescMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Variant
Relatedalso
OMIM604457
DescNUCLEAR BODY PROTEIN SP110; SP110
Variant
Relatedalso


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

OMIM604457
Desc
Variant0003
Relatedalso


ClinVar
Risk rs3948464(C;C)
Alt rs3948464(C;C)
Reference rs3948464(T;T)
Significance Other
Disease Mycobacterium tuberculosis
Variation info
Gene SP110
CLNDBN Mycobacterium tuberculosis, susceptibility to
Reversed 1
HGVS NC_000002.11:g.231050715A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005877.5,



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

[PMID 20196868OA-icon.png] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

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


GET Evidence
SP110-L425S
aa_change Leu425Ser
aa_change_short L425S
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.863357
summary This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.



[PMID 22522001] Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians