rs3948464

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0
(T;T)	0	common in clinvar

Make rs3948464(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

230185999

Gene

SP110

is a	snp
is	mentioned by
dbSNP	rs3948464
dbSNP (classic)	rs3948464
ClinGen	rs3948464
ebi	rs3948464
HLI	rs3948464
Exac	rs3948464
Gnomad	rs3948464
Varsome	rs3948464
LitVar	rs3948464
Map	rs3948464
PheGenI	rs3948464
Biobank	rs3948464
1000 genomes	rs3948464
hgdp	rs3948464
ensembl	rs3948464
geneview	rs3948464
scholar	rs3948464
google	rs3948464
pharmgkb	rs3948464
gwascentral	rs3948464
openSNP	rs3948464
23andMe	rs3948464
SNPshot	rs3948464
SNPdbe	rs3948464
MSV3d	rs3948464
GWAS Ctlg	rs3948464

GMAF

0.1028

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

associated with genetic susceptibility to tuberculosis in West Africa

OMIM	607948
Desc	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Variant
Related	also

OMIM	604457
Desc	NUCLEAR BODY PROTEIN SP110; SP110
Variant
Related	also

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

OMIM	604457
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs3948464(C;C) rs3948464(G;G)
Alt	Rs3948464(C;C) rs3948464(G;G)
Reference	Rs3948464(T;T)
Significance	Non-pathogenic
Disease	Mycobacterium tuberculosis not specified
Variation	info
Gene	SP110
CLNDBN	Mycobacterium tuberculosis, susceptibility to not specified
Reversed	1
HGVS	NC_000002.11:g.231050715A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005877.5, RCV000455916.1,

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

[PMID 20196868] 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.

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