rs2736340

plus

Geno	Mag	Summary
(T;T)	2

Make rs2736340(C;C)

Make rs2736340(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

11486464

is a	snp
is	mentioned by
dbSNP	rs2736340
dbSNP (classic)	rs2736340
ClinGen	rs2736340
ebi	rs2736340
HLI	rs2736340
Exac	rs2736340
Gnomad	rs2736340
Varsome	rs2736340
LitVar	rs2736340
Map	rs2736340
PheGenI	rs2736340
Biobank	rs2736340
1000 genomes	rs2736340
hgdp	rs2736340
ensembl	rs2736340
geneview	rs2736340
scholar	rs2736340
google	rs2736340
pharmgkb	rs2736340
gwascentral	rs2736340
openSNP	rs2736340
23andMe	rs2736340
SNPshot	rs2736340
SNPdbe	rs2736340
MSV3d	rs2736340
GWAS Ctlg	rs2736340

GMAF

0.3792

Max Magnitude

2

?

(C;C) (C;T) (T;T)

28

GWAS snp
PMID	[PMID 19503088 ]
Trait	Rheumatoid arthritis
Title	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
Risk Allele	A
P-val	6E-9
Odds Ratio	1.19 [1.13-1.27]

[PMID 19740902] Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population

[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome

[PMID 19796918 ] Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations

[PMID 20156505] Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis

OMIM	180300
Desc
Variant
Related	also

GWAS snp
PMID	[PMID 21408207 ]
Trait
Title	Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
Risk Allele	T
P-val	3E-7
Odds Ratio	1.3800 [1.23-1.56]

GWAS snp
PMID	[PMID 22446961]
Trait
Title	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
Risk Allele	T
P-val	9E-10
Odds Ratio	1.5380 None

[PMID 19838195 ] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

[PMID 20018022 ] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.

[PMID 20169177 ] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

[PMID 21765104 ] Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.

GWAS snp
PMID	[PMID 23740937 ]
Trait	Systemic lupus erythematosus and Systemic sclerosis
Title	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Risk Allele
P-val	1E-8
Odds Ratio	1.22 [NR]

[PMID 22328738 ] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

[PMID 22696686 ] Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

[PMID 23023776 ] European genetic ancestry is associated with a decreased risk of lupus nephritis.

[PMID 23678157] Integrative analyses for functional mechanisms underlying associations for rheumatoid arthritis.

[PMID 26092158] IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups

[PMID 26182267] [Genetic susceptibility in children with incomplete Kawasaki disease]

[PMID 26420661] Gene-gene interaction of ATG5, ATG7, BLK and BANK1 in systemic lupus erythematosus

[PMID 32153635 ] Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.