SNP Detail For rs2076530
1.Mapping Information
Human SNP ID rs2076530
Human chromosome chr6
Human SNP position 32396039
Pig chromosome chr7
Pig SNP position 29006359
2.Annotation Information
PubMed ID22936702
JournalEur Respir J
Linkwww.ncbi.nlm.nih.gov/pubmed/22936702
StudyGenome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
Disease/TraitSarcoidosis
Initial sample637 European ancestry cases, 1,233 European ancestry controls
Replication sample3,121 European ancestry cases, 4,284 European ancestry controls
Region6p21.32
Chromosome idchr6
Chromosome position32396039
Reported geneBTNL2
Mapped geneBTNL2, LOC101929163
Upstream gene id
Downstream gene id
SNP gene ids56244, 101929163
Upstream gene distance
Downstream gene distance
SNP risk allelers2076530-?
SNPsrs2076530
Merged0
SNP id current2076530
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.00000000003
Pvalue mlog10.5228787452803
P value text(Chronic)
Or beta
%95 Ci
PlatformAffymetrix [677619]
CNVN
Mapped traitSarcoidosis
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_797
Study accessionGCST001654