chr10:62179812:C>T Detail (hg19) (ANK3)

Information

Genome

Assembly Position
hg19 chr10:62,179,812-62,179,812
hg38 chr10:60,420,054-60,420,054 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204403.1:c.97-140415G>A
NM_001204404.1:c.64-140415G>A
Ensemble ENST00000373827.6:c.97-140415G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.361
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600465 OMIM
HGNC 494 HGNC
Ensembl ENSG00000151150 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39463033 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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
0.129 schizophrenia The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.003 Unipolar Depression The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
<0.001 Migraine Disorders In the present study, we did not find evidence for association between the bipol... BeFree 21395576 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
0.003 major depressive disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.270 bipolar disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.266 bipolar disorder The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.135 schizophrenia The rs10994336 ANK3 and rs1006737 CACNA1C genetic variants have recently been id... BeFree 21676128 Detail
0.266 bipolar disorder Due to evidence of genetic overlap between schizophrenia and BD, we investigated... BeFree 23109352 Detail
<0.001 Unipolar Depression We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs... BeFree 21702894 Detail
0.266 bipolar disorder Collaborative genome-wide association analysis supports a role for ANK3 and CACN... GWASCAT 18711365 Detail
0.001 bronchopulmonary dysplasia Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and ... BeFree 24914473 Detail
0.266 bipolar disorder In sum, our findings show that ANK3 rs10994336 or a variant in linkage-disequili... BeFree 22079454 Detail
0.266 bipolar disorder [Collaborative genome-wide association analysis supports a role for ANK3 and CAC... GAD 18711365 Detail
0.001 borderline personality disorder Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and ... BeFree 24914473 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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
In the present study, we did not find evidence for association between the bipolar disorder risk pol... 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
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
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
Due to evidence of genetic overlap between schizophrenia and BD, we investigated common findings by ... DisGeNET Detail
We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs1076... DisGeNET Detail
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disor... DisGeNET Detail
Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and rs10994336) were fou... DisGeNET Detail
In sum, our findings show that ANK3 rs10994336 or a variant in linkage-disequilibrium is functional ... DisGeNET Detail
[Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar diso... DisGeNET Detail
Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and rs10994336) were fou... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10994336 dbSNP
Genome
hg19
Position
chr10:62,179,812-62,179,812
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs10994336
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.361
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6051
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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