rs2076530

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)		2x risk for sarcoidosis
(A;G)		increased risk for sarcoidosis
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

6

Position

32396039

Gene	BTNL2, LOC101929163

is a	snp
is	mentioned by
dbSNP	rs2076530
dbSNP (classic)	rs2076530
ClinGen	rs2076530
ebi	rs2076530
HLI	rs2076530
Exac	rs2076530
Gnomad	rs2076530
Varsome	rs2076530
LitVar	rs2076530
Map	rs2076530
PheGenI	rs2076530
Biobank	rs2076530
1000 genomes	rs2076530
hgdp	rs2076530
ensembl	rs2076530
geneview	rs2076530
scholar	rs2076530
google	rs2076530
pharmgkb	rs2076530
gwascentral	rs2076530
openSNP	rs2076530
23andMe	rs2076530
SNPshot	rs2076530
SNPdbe	rs2076530
MSV3d	rs2076530
GWAS Ctlg	rs2076530

GMAF

0.3779

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

rs2076530(A) was estimated to double the risk of developing sarcoidosis, at least as based on a study of Caucasians. [PMID 15735647]

Although by itself it was not associated with increased risk for sarcoidosis in a population of African descent, this allele was part of a disease-associated haplotype. [PMID 16080124]

The rs2076530 SNP has also been investigated for associations with multiple sclerosis, Type-1 diabetes, SLE, and rheumatoid arthritis, but any association seen has apparently been due to carryover effects from nearby major histocompatibility haplotypes. [PMID 16690410, PMID 16321988]

[PMID 19050377] rs2076530(A;A) associated with a risk of sensitization towards Der f allergies (Odds ratio; 1.55, p = 0.0060)

OMIM	612387
Desc	SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2
Variant
Related	also

OMIM	606000
Desc	BUTYROPHILIN-LIKE PROTEIN 2; BTNL2
Variant
Related	also

[PMID 20176143] Analysis of the Association between BTNL2 Polymorphism and Tuberculosis in Chinese Han population

OMIM	606000
Desc
Variant	0001
Related	also

[PMID 21410903] The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis

[PMID 16400609] Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.

[PMID 16526951] On the Wegener granulomatosis associated region on chromosome 6p21.3.

[PMID 16937379] SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.

[PMID 16984233] Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.

[PMID 17347014] Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.

[PMID 17660530] Risk alleles for multiple sclerosis identified by a genomewide study.

[PMID 17661910] Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.

[PMID 19161620] An open access database of genome-wide association results.

[PMID 19936222] Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

[PMID 20018063] Detecting significant single-nucleotide polymorphisms in a rheumatoid arthritis study using random forests.

[PMID 20018075] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.

[PMID 20018081] Assessment of gene-covariate interactions by incorporating covariates into association mapping.

[PMID 20041220] Autoimmune disease classification by inverse association with SNP alleles.

[PMID 20305777] New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.

[PMID 23017494] BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis

[PMID 22991420] Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles

GWAS snp
PMID	[PMID 22936702]
Trait	Sarcoidosis
Title	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
Risk Allele
P-val	3E-11
Odds Ratio	NR NR

[PMID 23543185] Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.

[PMID 25078641] Lack of correlation of BTNL2 polymorphism and cancer risk in sarcoidosis. BTNL2 and cancer risk in sarcoidosis

ClinVar
Risk	Rs2076530(G;G)
Alt	Rs2076530(G;G)
Reference	Rs2076530(A;A)
Significance	Other
Disease	Sarcoidosis 2
Variation	info
Gene	LOC101929163 BTNL2
CLNDBN	Sarcoidosis 2
Reversed	1
HGVS	NC_000006.11:g.32363816T\x3d
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004912.2,

[PMID 30872286] BTNL2 gene polymorphism and sarcoid uveitis.