{{Rsnum
|rsid=2076530
|Gene=BTNL2
|Chromosome=6
|position=32396039
|Orientation=minus
|GMAF=0.3779
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BTNL2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 30.4 | 46.4 | 23.2
| HCB | 51.1 | 36.6 | 12.2
| JPT | 56.8 | 25.0 | 18.2
| YRI | 50.3 | 44.2 | 5.4
| ASW | 49.1 | 40.4 | 10.5
| CHB | 51.1 | 36.6 | 12.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 36.4 | 45.5 | 18.2
| LWK | 68.2 | 26.4 | 5.5
| MEX | 15.5 | 58.6 | 25.9
| MKK | 66.9 | 31.2 | 1.9
| TSI | 44.6 | 39.6 | 15.8
| HapMapRevision=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|OA=1
}}

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
|desc=SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2
|id=612387
|rsnum=2076530
}}

{{omim
|id=606000
|desc=BUTYROPHILIN-LIKE PROTEIN 2; BTNL2
|rsnum=2076530
}}

{{PMID Auto
|PMID=20176143
|Title=Analysis of the Association between BTNL2 Polymorphism and Tuberculosis in Chinese Han population
}}

{{omim
|id=606000
|rsnum=2076530
|variant=0001
}}

{{PMID Auto
|PMID=21410903
|Title=The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis
}}

{{PMID Auto
|PMID=16400609
|Title=Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.
|OA=1
}}

{{PMID Auto
|PMID=16526951
|Title=On the Wegener granulomatosis associated region on chromosome 6p21.3.
|OA=1
}}

{{PMID Auto
|PMID=16937379
|Title=SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
}}

{{PMID Auto
|PMID=16984233
|Title=Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.
}}

{{PMID Auto
|PMID=17347014
|Title=Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.
}}

{{PMID Auto
|PMID=17660530
|Title=Risk alleles for multiple sclerosis identified by a genomewide study.
}}

{{PMID Auto
|PMID=17661910
|Title=Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.
}}

{{PMID Auto
|PMID=19161620
|Title=An open access database of genome-wide association results.
|OA=1
}}

{{PMID Auto
|PMID=19936222
|Title=Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
|OA=1
}}

{{PMID Auto
|PMID=20018063
|Title=Detecting significant single-nucleotide polymorphisms in a rheumatoid arthritis study using random forests.
|OA=1
}}

{{PMID Auto
|PMID=20018075
|Title=Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.
|OA=1
}}

{{PMID Auto
|PMID=20018081
|Title=Assessment of gene-covariate interactions by incorporating covariates into association mapping.
|OA=1
}}

{{PMID Auto
|PMID=20041220
|Title=Autoimmune disease classification by inverse association with SNP alleles.
|OA=1
}}

{{PMID Auto
|PMID=20305777
|Title=New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=23017494
|Title=BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis
}}

{{GET Evidence
|gene=BTNL2
|aa_change=Ser360Gly
|aa_change_short=S360G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2076530
|overall_frequency_n=2945
|overall_frequency_d=7518
|overall_frequency=0.391727
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=43
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=22991420
|Title=Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles
}}

{{PMID Auto GWAS
  |PMID=22936702
  |Trait=Sarcoidosis
  |Title=Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
  |RiskAllele=
  |Pval=3E-11
  |OR=NR
  |ORtxt=NR
  }}

{{PMID Auto
|PMID=23543185
|Title=Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.
}}

{{PMID Auto
|PMID=25078641
|Title=Lack of correlation of BTNL2 polymorphism and cancer risk in sarcoidosis. BTNL2 and cancer risk in sarcoidosis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}