openSNP | rs2076530

Links to SNPedia

Title	Summary
rs2076530 A/G	Increased risk for sarcoidosis
rs2076530 C/C	No summary provided.
rs2076530 A/A	2x risk for sarcoidosis
rs2076530 G/G	Normal

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Tong Zhou	Peripheral Blood Gene Expression as a Novel Genomic Biomarker in Complicated Sarcoidosis	2012	8264
Masahiro Nakajima	New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study	2010	4819
Daniel I. Chasman	Forty-Three Loci Associated with Plasma Lipoprotein Size, Concentration, and Cholesterol Content in Genome-Wide Analysis	2009	13490
Marina Sirota	Autoimmune Disease Classification by Inverse Association with SNP Alleles	2009	18355
Indra Adrianto	Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility	2012	6080
Annika Wennerström	Diversity of Extended HLA-DRB1 Haplotypes in the Finnish Population	2013	3432
Yihua Lin	BTNL2 Gene Polymorphism and Sarcoidosis Susceptibility: A Meta-Analysis	2015	861

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Nils Milman	The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis.	2011	2	10.1111/j.1752-699X.2010.00206.x
M Coudurier	Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.	2009	3
C H M van Moorsel	A haplotype of HLA-class II and BTNL2 associates with the diagnosis of extrinsic allergic alveolitis (EAA)	2008	1
V Levasseur	An entropy-variable-based VMS/GLS method for the simulation of compressible flows on unstructured grids	2006	5	10.1016/j.cma.2005.04.009
Benjamin A Rybicki	The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.	2005	8	-
Ruta Valentonyte	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.	2005	42	10.1038/ng1519
Marlo M??ller	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population	2007	9	10.1016/j.micinf.2007.01.011
Satoshi Konno	Genetic impact of a butyrophilin-like 2 (BTNL2) gene variation on specific IgE responsiveness to Dermatophagoides farinae (Der f) in Japanese.	2009	2	-
Marlo Möller	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.	2007	8	10.1016/j.micinf.2007.01.011
Paweł Szyld	On the Wegener granulomatosis associated region on chromosome 6p21.3.	2006	8	10.1186/1471-2350-7-21
Benjamin A Rybicki	The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.	2005	10	10.1086/444435
Satoshi Konno	Genetic impact of a butyrophilin-like 2 (BTNL2) gene variation on specific IgE responsiveness to Dermatophagoides farinae (Der f) in Japanese.	2009	2	10.2332/allergolint.08-OA-0005
P Spagnolo	Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.	2007	2	-
G Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus	2005	1	S0198-8859(06)00004-8 [pii]\r10.1016/j.humimm.2006.02.003
Agostinho Marques	BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis	2012	1	10.1016/j.rmed.2012.08.009
Gisela Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus.	2005	1	10.1016/j.humimm.2006.02.003
Yuanyuan Lian	Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population.	2010	1	10.1016/j.meegid.2010.02.006
Nils Milman	The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis.	2011	2	10.1111/j.1752-699X.2010.00206.x
G Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus	2005	4	10.1016/j.humimm.2006.02.003
C H M Van Moorsel	A haplotype of HLA-class II and BTNL2 associates with the diagnosis of extrinsic allergic alveolitis (EAA)	2008	1	-
G Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus	2005	1
Yuanyuan Lian	Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population.	2010	2	-
Ruta Valentonyte	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.	2005	30	-
M J Simmonds	Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.	2006	0
António Morais	BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis.	2012	0	10.1016/j.rmed.2012.08.009
G Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus	2005	3	10.1016/j.humimm.2006.02.003
Yvette Cozier	Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.	2013	3	10.1007/s00439-013-1292-5
P Spagnolo	Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.	2007	2	10.1111/j.1399-0039.2007.00879.x
Ant??nio Morais	BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis	2012	2	10.1016/j.rmed.2012.08.009
Abdou ElSharawy	SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.	2006	23	10.1002/humu.20377
Abdou ElSharawy	SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.	2006	18	-
S.-i. Morimoto	Genetic Characterization and Susceptibility for Sarcoidosis in Japanese Patients: Risk Factors of BTNL2 Gene Polymorphisms and HLA Class II Alleles	2012	1	10.1167/iovs.12-10491
M Moller	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population	2007	1	-
P Spagnolo	Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.	2007	9	10.1111/j.1399-0039.2007.00879.x
G Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus	2005	1	S0198-8859(06)00004-8 [pii]\r10.1016/j.humimm.2006.02.003
Gisela Orozco	Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus.	2005	6	-
Gisela Orozco	Analysis of a Functional BTNL2 Polymorphism in Type 1 Diabetes, Rheumatoid Arthritis, and Systemic Lupus Erythematosus	2005	2	10.1016/j.humimm.2006.02.003
Yuanyuan Lian	Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population	2010	1	10.1016/j.meegid.2010.02.006
Marlo Möller	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.	2007	6	-
Fluid Dynamics	Numerical Modelling of Diesel Spray Injection , Turbulence Interaction and Combustion	2008	22	10.1007/s00256-008-0597-2
Marlo Moller	17347014	2007	0	10.1016/j.micinf.2007.01.011
M J Simmonds	Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.	2006	0	-
M Coudurier	Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.	2009	2	-
Hitomi Suzuki	Genetic Characterization and Susceptibility for Sarcoidosis in Japanese Patients: Risk Factors of BTNL2 Gene Polymorphisms and HLA Class II Alleles.	2012	0	10.1167/iovs.12-10491

Evidence compiled by the Personal Genome Project

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Publications listed by Genome.gov

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Name	rs2076530
Chromosome	6
Position	32396039
Weight of evidence	78

SNP rs2076530

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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