Have questions? Visit https://www.reddit.com/r/SNPedia

rs2736340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 2
Make rs2736340(C;C)
Make rs2736340(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11486464
is asnp
is mentioned by
dbSNPrs2736340
ebirs2736340
HLIrs2736340
Exacrs2736340
Varsomers2736340
Maprs2736340
PheGenIrs2736340
hapmaprs2736340
1000 genomesrs2736340
hgdprs2736340
ensemblrs2736340
gopubmedrs2736340
geneviewrs2736340
scholarrs2736340
googlers2736340
pharmgkbrs2736340
gwascentralrs2736340
openSNPrs2736340
23andMers2736340
23andMe allrs2736340
SNP Nexus

SNPshotrs2736340
SNPdbers2736340
MSV3drs2736340
GWAS Ctlgrs2736340
GMAF0.3792
Max Magnitude2
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19503088OA-icon.png]
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 19796918OA-icon.png] 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

OMIM180300
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21408207OA-icon.png]
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 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


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


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


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


GET Evidence
rs2736340
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.3125
summary



GWAS snp
PMID [PMID 23740937OA-icon.png]
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 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.


[PMID 22696686OA-icon.png] 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 23023776OA-icon.png] 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