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rs2114592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2114592(C;T)
Make rs2114592(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position230210491
GeneLOC101928789, SP110
is asnp
is mentioned by
dbSNPrs2114592
ebirs2114592
HLIrs2114592
Exacrs2114592
Varsomers2114592
Maprs2114592
PheGenIrs2114592
hapmaprs2114592
1000 genomesrs2114592
hgdprs2114592
ensemblrs2114592
gopubmedrs2114592
geneviewrs2114592
scholarrs2114592
googlers2114592
pharmgkbrs2114592
gwascentralrs2114592
openSNPrs2114592
23andMers2114592
23andMe allrs2114592
SNP Nexus

SNPshotrs2114592
SNPdbers2114592
MSV3drs2114592
GWAS Ctlgrs2114592
GMAF0.1529
Max Magnitude0
? (C;C) (C;T) (T;T) 28
tuberculosis
OMIM607948
DescMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Variant
Relatedalso
OMIM604457
DescNUCLEAR BODY PROTEIN SP110; SP110
Variant
Relatedalso
OMIM604457
Desc
Variant0004
Relatedalso
[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 22522001] Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians


ClinVar
Risk rs2114592(T;T)
Alt rs2114592(T;T)
Reference rs2114592(C;C)
Significance Other
Disease Mycobacterium tuberculosis
Variation info
Gene SP110 LOC101928789
CLNDBN Mycobacterium tuberculosis, susceptibility to
Reversed 1
HGVS NC_000002.11:g.231075206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005878.5,