SNP Detail For rs1006737
1.Mapping Information
Human SNP ID rs1006737
Human chromosome chr12
Human SNP position 2236129
Pig chromosome chr5
Pig SNP position 71462856
2.Annotation Information
PubMed ID18711365
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18711365
StudyCollaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Disease/TraitBipolar disorder
Initial sample4,387 European ancestry cases, 6,209 European ancestry controls
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-A
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequency0.32
P value0.00000007
Pvalue mlog7.15490195998574
P value text
Or beta1.18
%95 Ci[NR]
PlatformAffymetrix [1769948] (imputed)
CNVN
Mapped traitbipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST000220
PubMed ID23974872
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23974872
StudyGenome-wide association analysis identifies 13 new risk loci for schizophrenia.
Disease/TraitSchizophrenia
Initial sample5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls
Replication sample4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-A
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequency0.332
P value0.000000000005
Pvalue mlog11.3010299956639
P value text
Or beta1.103
%95 Ci[1.08-1.13]
PlatformAffymetrix, Illumina [9871789]
CNVN
Mapped traitschizophrenia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000692
Study accessionGCST002149
PubMed ID24280982
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/24280982
StudyPolygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
Disease/TraitSchizophrenia or bipolar disorder
Initial sampleUp to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-?
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequency
P value0.0000000000006
Pvalue mlog12.2218487496163
P value text(SCZ or BP vs. controls)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 1100000] (imputed)
CNVN
Mapped traitschizophrenia, bipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000692, http://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST002295
PubMed ID23453885
JournalLancet
Linkwww.ncbi.nlm.nih.gov/pubmed/23453885
StudyIdentification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Disease/TraitAutism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)
Initial sample6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder tr
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneDCP1B, CACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-?
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000005
Pvalue mlog8.30102999566398
P value text(5 degree of freedom test)
Or beta1.071
%95 Ci[1.05-1.10]
PlatformNR [1252901] (imputed)
CNVN
Mapped traitattention deficit hyperactivity disorder, unipolar depression, schizophrenia, autism spectrum disorder, bipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003888, http://www.ebi.ac.uk/efo/EFO_0003761, http://www.ebi.ac.uk/efo/EFO_0000692, http://www.ebi.ac.uk/efo/EFO_0003756, http://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST001877
PubMed ID24280982
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/24280982
StudyPolygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
Disease/TraitSchizophrenia or bipolar disorder
Initial sampleUp to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-?
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000007
Pvalue mlog7.15490195998574
P value text(BP vs. controls)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 1100000] (imputed)
CNVN
Mapped traitbipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST002295
PubMed ID24280982
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/24280982
StudyPolygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
Disease/TraitSchizophrenia or bipolar disorder
Initial sampleUp to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-?
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000002
Pvalue mlog5.69897000433601
P value text(SCZ vs. controls)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 1100000] (imputed)
CNVN
Mapped traitschizophrenia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000692
Study accessionGCST002295
PubMed ID20351715
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/20351715
StudyMeta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
Disease/TraitBipolar disorder or major depressive disorder (combined)
Initial sample4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls
Replication sampleNA
Region12p13.33
Chromosome idchr12
Chromosome position2236129
Reported geneCACNA1C
Mapped geneCACNA1C
Upstream gene id
Downstream gene id
SNP gene ids775
Upstream gene distance
Downstream gene distance
SNP risk allelers1006737-?
SNPsrs1006737
Merged0
SNP id current1006737
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta
%95 Ci
PlatformAffymetrix, Perlegen [1472580] (imputed)
CNVN
Mapped traitunipolar depression, bipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003761, http://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST000641