Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(A;A) 1.7 increased risk of Bipolar disorder
(G;G) 0
Make rs1006737(A;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1006737
23andMe allrs1006737
SNP Nexus

GWAS Ctlgrs1006737
Max Magnitude1.7
? (A;A) (A;G) (G;G) 28

23andMe blog rs1006737 or (rs2159100) Each T at this SNP increased the odds of bipolar disorder by 1.18 times compared to having two CC copies

GWAS snp
PMID [PMID 18711365OA-icon.png]
Trait Bipolar disorder
Title Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Risk Allele A
P-val 7E-8
Odds Ratio 1.18 [NR]
[PMID 19621016OA-icon.png] The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

[PMID 19781653] Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

GWAS snp
PMID [PMID 20351715OA-icon.png]
Trait Bipolar disorder and major depressive disorder (combined)
Title Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder
Risk Allele A
P-val 3E-8
Odds Ratio 1.18 [NR] (bipolar)

[PMID 20638048] Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals

[PMID 20636642] Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression

[PMID 20679588] Brain function in carriers of a genome-wide supported bipolar disorder variant

[PMID 20819988OA-icon.png] Genetic Variation in CACNA1C Affects Brain Circuitries Related to Mental Illness

[PMID 21042317OA-icon.png] Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned

[PMID 21292451] Initial evidence for the role of CACNA1C on subcortical brain morphology in patients with bipolar disorder

[PMID 21676128] The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males

[PMID 22012475OA-icon.png] The Effects of CACNA1C Gene Polymorphism on Spatial Working Memory in Both Healthy Controls and Patients with Schizophrenia or Bipolar Disorder

[PMID 22085483OA-icon.png] The association of genetic variation in CACNA1C with structure and function of a frontotemporal system

[PMID 19388002] Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder.

[PMID 19416921OA-icon.png] Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

[PMID 20098439] CACNA1C (rs1006737) is associated with schizophrenia.

[PMID 20226536] Variations in FKBP5 and BDNF genes are suggestively associated with depression in a Swedish population-based cohort.

[PMID 21078228] Effects of a CACNA1C genotype on attention networks in healthy individuals.

[PMID 21395576] No association between bipolar disorder risk polymorphisms in ANK3 and CACNA1C and common migraine.

[PMID 21767209] ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype.

[PMID 22665259] The psychiatric vulnerability gene CACNA1C and its sex-specific relationship with personality traits, resilience factors and depressive symptoms in the general population.

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.396825

[PMID 23404764] Association of rs1006737 in CACNA1C with alterations in prefrontal activation and fronto-hippocampal connectivity

[PMID 23406546] The CACNA1C risk allele selectively impacts on executive function in bipolar type I disorder

[PMID 23437284OA-icon.png] CACNA1C Risk Variant and Amygdala Activity in Bipolar Disorder, Schizophrenia and Healthy Controls

GWAS snp
PMID [PMID 23453885OA-icon.png]
Trait Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)
Title Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Risk Allele
P-val 5E-9
Odds Ratio 1.07 [1.05-1.10]

[PMID 23979604OA-icon.png] A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain

[PMID 24108394] Independent Modulation of Engagement and Connectivity of the Facial Network During Affect Processing by CACNA1C and ANK3 Risk Genes for Bipolar Disorder

[PMID 24262814] CACNA1C, schizophrenia and major depressive disorder in the Han Chinese population

[PMID 24269271] The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: A diffusion tensor imaging study

[PMID 22005930OA-icon.png] Genome-wide association study of Alzheimer's disease with psychotic symptoms.

[PMID 22290120OA-icon.png] The evolutionary significance of depression in Pathogen Host Defense (PATHOS-D).

[PMID 22914618] Evidence for the impact of the CACNA1C risk allele rs1006737 on 2-year cognitive functioning in bipolar disorder.

[PMID 23070075OA-icon.png] Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.

[PMID 23437964OA-icon.png] Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study.

GWAS snp
PMID [PMID 24280982OA-icon.png]
Trait Schizophrenia or bipolar disorder
Title Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
Risk Allele
P-val 6E-13
Odds Ratio NR NR

[PMID 25124521] Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain

GWAS snp
PMID [PMID 23974872OA-icon.png]
Trait Schizophrenia
Title Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Risk Allele A
P-val 5E-12
Odds Ratio 1.10 [1.08-1.13]

[PMID 25588813] Evaluating the association between CACNA1C rs1006737 and schizophrenia risk: A meta-analysis

[PMID 24643163OA-icon.png] Epistatic interaction of genetic depression risk variants in the human subgenual cingulate cortex during memory encoding

[PMID 25843436] CACNA1C SNP rs1006737 associates with bipolar I disorder independent of the Bcl-2 SNP rs956572 variant and its associated effect on intracellular calcium homeostasis

[PMID 26048451] CACNA1C risk variant is associated with increased amygdala volume

[PMID 26204268OA-icon.png] Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism

[PMID 26227746] Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta-analysis

[PMID 26475575] A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder

[PMID 26541689] CACNA1C polymorphism and altered phosphorylation of tau in bipolar disorder

[PMID 26756527] The impact of CACNA1C allelic variation on regional gray matter volume in Chinese population.

[PMID 27276213] Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.