PigVar

1.Mapping Information

Human SNP ID	rs2681472
Human chromosome	chr12
Human SNP position	89615182
Pig chromosome	chr5
Pig SNP position	97693103

2.Annotation Information

PubMed ID	19430479
Journal	Nat Genet
Link	www.ncbi.nlm.nih.gov/pubmed/19430479
Study	Genome-wide association study of blood pressure and hypertension.
Disease/Trait	Hypertension
Initial sample	29,136 European ancestry individuals
Replication sample	34,433 European ancestry individuals
Region	12q21.33
Chromosome id	chr12
Chromosome position	89615182
Reported gene	ATP2B1
Mapped gene	ATP2B1
Upstream gene id
Downstream gene id
SNP gene ids	490
Upstream gene distance
Downstream gene distance
SNP risk allele	rs2681472-A
SNPs	rs2681472
Merged	0
SNP id current	2681472
Context	intron_variant
Intergenic	0
Allele frequency	0.83
P value	0.00000000002
Pvalue mlog	10.698970004336
P value text
Or beta	0.15
%95 Ci	[0.11-0.19] log odds increase
Platform	Affymetrix, Illumina [2533153] (imputed)
CNV	N
Mapped trait	hypertension
Mapped trait URI	http://www.ebi.ac.uk/efo/EFO_0000537
Study accession	GCST000398

PubMed ID	19430479
Journal	Nat Genet
Link	www.ncbi.nlm.nih.gov/pubmed/19430479
Study	Genome-wide association study of blood pressure and hypertension.
Disease/Trait	Diastolic blood pressure
Initial sample	29,136 European ancestry individuals
Replication sample	34,433 European ancestry individuals
Region	12q21.33
Chromosome id	chr12
Chromosome position	89615182
Reported gene	ATP2B1
Mapped gene	ATP2B1
Upstream gene id
Downstream gene id
SNP gene ids	490
Upstream gene distance
Downstream gene distance
SNP risk allele	rs2681472-A
SNPs	rs2681472
Merged	0
SNP id current	2681472
Context	intron_variant
Intergenic	0
Allele frequency	0.83
P value	0.000000001
Pvalue mlog	9
P value text
Or beta	0.5
%95 Ci	[0.34-0.66] mm Hg increase
Platform	Affymetrix, Illumina [2533153] (imputed)
CNV	N
Mapped trait	diastolic blood pressure
Mapped trait URI	http://www.ebi.ac.uk/efo/EFO_0006336
Study accession	GCST000396

PubMed ID	26343387
Journal	Nat Genet
Link	www.ncbi.nlm.nih.gov/pubmed/26343387
Study	A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Disease/Trait	Coronary artery disease
Initial sample	42,096 European ancestry cases, 361 African American cases, 758 Hispanic American cases, 12,658 South Asian ancestry cases, 1,802 Lebanese ancestry cases, 3,614 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls,
Replication sample	NA
Region	12q21.33
Chromosome id	chr12
Chromosome position	89615182
Reported gene	ATP2B1
Mapped gene	ATP2B1
Upstream gene id
Downstream gene id
SNP gene ids	490
Upstream gene distance
Downstream gene distance
SNP risk allele	rs2681472-G
SNPs	rs2681472
Merged	0
SNP id current	2681472
Context	intron_variant
Intergenic	0
Allele frequency	0.201306
P value	0.00000000006
Pvalue mlog	10.2218487496163
P value text
Or beta	1.08
%95 Ci	[1.05- 1.10]
Platform	Affymetrix, Illumina [8600000] (imputed)
CNV	N
Mapped trait	coronary artery disease
Mapped trait URI	http://www.ebi.ac.uk/efo/EFO_0000378
Study accession	GCST003116

PubMed ID	26343387
Journal	Nat Genet
Link	www.ncbi.nlm.nih.gov/pubmed/26343387
Study	A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Disease/Trait	Myocardial infarction
Initial sample	27,509 European ancestry cases, 130 African American cases, 278 Hispanic American cases, 10,257 South Asian ancestry cases, 288 Lebanese ancestry cases, 1,687 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls, 3
Replication sample	NA
Region	12q21.33
Chromosome id	chr12
Chromosome position	89615182
Reported gene	ATP2B1
Mapped gene	ATP2B1
Upstream gene id
Downstream gene id
SNP gene ids	490
Upstream gene distance
Downstream gene distance
SNP risk allele	rs2681472-G
SNPs	rs2681472
Merged	0
SNP id current	2681472
Context	intron_variant
Intergenic	0
Allele frequency	0.19
P value	0.000000006
Pvalue mlog	8.22184874961635
P value text
Or beta	1.08
%95 Ci	[1.05-1.1]
Platform	Affymetrix, Illumina [8600000] (imputed)
CNV	N
Mapped trait	myocardial infarction
Mapped trait URI	http://www.ebi.ac.uk/efo/EFO_0000612
Study accession	GCST003117

PubMed ID	26390057
Journal	Nat Genet
Link	www.ncbi.nlm.nih.gov/pubmed/26390057
Study	Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Disease/Trait	Systolic blood pressure
Initial sample	31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals
Replication sample	87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals and 16,328 South Asian ancestry individuals
Region	12q21.33
Chromosome id	chr12
Chromosome position	89615182
Reported gene	ATP2B1
Mapped gene	ATP2B1
Upstream gene id
Downstream gene id
SNP gene ids	490
Upstream gene distance
Downstream gene distance
SNP risk allele	rs2681472-A
SNPs	rs2681472
Merged	0
SNP id current	2681472
Context	intron_variant
Intergenic	0
Allele frequency	0.6447
P value	0.000003
Pvalue mlog	5.52287874528033
P value text	(South Asians)
Or beta	0.7819
%95 Ci	[0.46-1.11] mmHg increase
Platform	Affymetrix, Illumina, Perlegen [2127883] (imputed)
CNV	N
Mapped trait	systolic blood pressure
Mapped trait URI	http://www.ebi.ac.uk/efo/EFO_0006335
Study accession	GCST003272

THE PIG VARIATIONS AND POSITIVE SELECTION DATABASE