chr12:2345295:G>A Detail (hg19) (CACNA1C)

Information

Genome

Assembly Position
hg19 chr12:2,345,295-2,345,295
hg38 chr12:2,236,129-2,236,129 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001129831.1:c.477+115699G>A
NM_001129843.1:c.477+115699G>A
NM_001129829.1:c.477+115699G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.060
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain risk allele
Review star
Show details
Links
Type Database ID Link
Gene MIM 114205 OMIM
HGNC 1390 HGNC
Ensembl ENSG00000151067 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44701828 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain risk allele no assertion criteria provided post-traumatic stress disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 schizophrenia Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GWASCAT 23974872 Detail
0.002 depressive disorder P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect... BeFree 20226536 Detail
<0.001 Mood Disorders Four of the most consistently replicated variants associated with mood disorder ... BeFree 24944871 Detail
<0.001 Migraine Disorders In the present study, we did not find evidence for association between the bipol... BeFree 21395576 Detail
0.270 bipolar disorder [Meta-analysis of genome-wide association data of bipolar disorder and major dep... GAD 20351715 Detail
0.135 schizophrenia The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c s... BeFree 25290268 Detail
0.003 Unipolar Depression Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.129 schizophrenia The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.003 Mental Depression Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.003 major depressive disorder Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 19781653 Detail
0.002 Mood Disorders Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.001 Nonorganic psychosis Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 21078228 Detail
0.001 borderline personality disorder A nominally significant association with BPD was found for rs1006737 in CACNA1C ... BeFree 25304227 Detail
<0.001 schizophrenia Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed... BeFree 24275578 Detail
0.002 Mood Disorders Recent genetic association studies have identified the A-allele of rs1006737 wit... BeFree 22957138 Detail
0.001 depressive disorder Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.135 schizophrenia Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 21078228 Detail
0.003 major depressive disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.130 major depressive disorder Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
0.003 Unipolar Depression The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.270 bipolar disorder [Collaborative genome-wide association analysis supports a role for ANK3 and CAC... GAD 18711365 Detail
0.270 bipolar disorder An opportunity to define these mechanisms is provided by the recent discovery, t... BeFree 20679588 Detail
<0.001 Migraine Disorders In the present study, we did not find evidence for association between the bipol... BeFree 21395576 Detail
<0.001 bipolar disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 Unipolar Depression The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
<0.001 major depressive disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.270 bipolar disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.002 Psychotic Disorders Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 21078228 Detail
0.003 major depressive disorder Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
<0.001 Unipolar Depression Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.003 depressive disorder Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.270 bipolar disorder Collaborative genome-wide association analysis supports a role for ANK3 and CACN... GWASCAT 18711365 Detail
<0.001 major depressive disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 bipolar disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.003 Unipolar Depression Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
0.005 Mental disorders Genome-wide association studies have identified the CACNA1C single nucleotide po... BeFree 24269271 Detail
0.270 bipolar disorder On the other hand, our results indicate that alterations in the functional coupl... BeFree 23404764 Detail
<0.001 Mood Disorders Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.009 Mental Depression P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect... BeFree 20226536 Detail
<0.001 Unipolar Depression Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.003 major depressive disorder The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.003 major depressive disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
<0.001 Unipolar Depression Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 Mood Disorders Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
0.003 major depressive disorder Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 21078228 Detail
0.003 Unipolar Depression The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.270 bipolar disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.006 Mental Depression Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.270 bipolar disorder The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c s... BeFree 25290268 Detail
<0.001 major depressive disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 major depressive disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 schizophrenia Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed... BeFree 24275578 Detail
0.002 Mood Disorders Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
<0.001 bipolar disorder Suggestive but notable results were (a) gene-based tests suggesting roles for ad... BeFree 21042317 Detail
<0.001 Mood Disorders Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
0.002 Unipolar Depression Recent genome-wide association studies have pointed to single-nucleotide polymor... BeFree 24643163 Detail
0.266 bipolar disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.270 bipolar disorder Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 19781653 Detail
0.135 schizophrenia On the other hand, our results indicate that alterations in the functional coupl... BeFree 23404764 Detail
0.006 Mental Depression P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect... BeFree 20226536 Detail
0.135 schizophrenia The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.001 depressive disorder P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect... BeFree 20226536 Detail
0.003 Unipolar Depression Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 21078228 Detail
0.135 schizophrenia Several genetic studies have implicated the CACNA1C SNP rs1006737 in bipolar dis... BeFree 23437284 Detail
0.003 Unipolar Depression Recent genetic studies found the A allele of the variant rs1006737 in the alpha ... BeFree 19781653 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000719.7(CACNA1C):c.477+115699G>A AND Post-traumatic stress disorder ClinVar Detail
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. DisGeNET Detail
P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect on depression risk. DisGeNET Detail
Four of the most consistently replicated variants associated with mood disorder occur in genes impor... DisGeNET Detail
In the present study, we did not find evidence for association between the bipolar disorder risk pol... DisGeNET Detail
[Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.] DisGeNET Detail
The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
A nominally significant association with BPD was found for rs1006737 in CACNA1C (P=0.0498). DisGeNET Detail
Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed significant associa... DisGeNET Detail
Recent genetic association studies have identified the A-allele of rs1006737 within CACNA1C as a ris... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
[Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar diso... DisGeNET Detail
An opportunity to define these mechanisms is provided by the recent discovery, through genome-wide a... DisGeNET Detail
In the present study, we did not find evidence for association between the bipolar disorder risk pol... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disor... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
Genome-wide association studies have identified the CACNA1C single nucleotide polymorphism (SNP) rs1... DisGeNET Detail
On the other hand, our results indicate that alterations in the functional coupling between the pref... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect on depression risk. DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Further analysis of the haplotype rs1006737-rs4765905-rs882194 in CACNA1C showed significant associa... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
On the other hand, our results indicate that alterations in the functional coupling between the pref... DisGeNET Detail
P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect on depression risk. DisGeNET Detail
The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been identified as the most... DisGeNET Detail
P2RX7:2230912 and CACNA1C:rs1006737 did not have a large or moderate-size effect on depression risk. DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail
Several genetic studies have implicated the CACNA1C SNP rs1006737 in bipolar disorder (BD) and schiz... DisGeNET Detail
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr12:2,345,295-2,345,295
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1006737
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0595
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
997
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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