chr11:113400106:G>A Detail (hg38) (ANKK1)

Information

Genome

Assembly Position
hg19 chr11:113,270,828-113,270,828 View the variant detail on this assembly version.
hg38 chr11:113,400,106-113,400,106

HGVS

Type Transcript Protein
RefSeq NM_178510.1:c.2137G>A NP_848605.1:p.Glu713Lys
Ensemble ENST00000303941.4:c.2137G>A ENST00000303941.4:p.Glu713Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.376
ToMMo:0.373
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.427

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608774 OMIM
HGNC 21027 HGNC
Ensembl ENSG00000170209 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44079526 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2008-10-17 no assertion criteria provided Taq1A POLYMORPHISM germline Detail
Benign 2013-04-16 criteria provided, single submitter not specified germline Detail
Benign criteria provided, single submitter schizophrenia germline Detail
Likely benign 2021-07-22 criteria provided, single submitter ANKK1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 epilepsy Stage 1 analysis included 290 patients with epilepsy and revealed a higher load ... BeFree 22881836 Detail
<0.001 epilepsy Stage 1 analysis included 290 patients with epilepsy and revealed a higher load ... BeFree 22881836 Detail
0.133 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
<0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.020 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.003 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.002 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.291 schizophrenia Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymor... BeFree 25504812 Detail
0.009 schizophrenia Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymor... BeFree 25504812 Detail
0.082 depressive disorder The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.010 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.001 Nonorganic psychosis Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
<0.001 Bulimia We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
<0.001 major depressive disorder DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor ... BeFree 23683269 Detail
0.013 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.204 Alcoholic Intoxication, Chronic [The role of DRD2 and NPY on alcohol dependence was also supported.] GAD 20554694 Detail
0.010 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.155 attention deficit hyperactivity disorder Association between ANKK1 (rs1800497) polymorphism of DRD2 gene and attention de... BeFree 25641135 Detail
0.032 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
<0.001 attention deficit hyperactivity disorder Association between ANKK1 (rs1800497) polymorphism of DRD2 gene and attention de... BeFree 25641135 Detail
0.016 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
<0.001 Mental Depression The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.004 nicotine dependence Age, gender, Fagerström Test for Nicotine Dependence, dopamine pathway genotypes... BeFree 23941313 Detail
0.013 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
<0.001 Eating Disorders We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.010 Mood Disorders The DRD2 rs1800497 polymorphism increase the risk of mood disorder: evidence fro... BeFree 24655768 Detail
0.019 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.009 schizophrenia Identification of ANKK1 rs1800497 variant in schizophrenia: new data and meta-an... BeFree 25073965 Detail
0.002 Unipolar Depression DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor ... BeFree 23683269 Detail
0.004 Mental disorders The TaqIA single nucleotide polymorphism (SNP, rs1800497), which is located in t... BeFree 19526298 Detail
0.006 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
<0.001 Opiate Addiction On the basis of an analysis spanning the whole gene locus, from the DRD2 promote... BeFree 19373123 Detail
0.006 Marijuana Abuse Growing evidence indicated conflicting results about the dopamine receptor D2 (D... BeFree 25500252 Detail
<0.001 Bulimia We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.003 Bulimia We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.004 substance dependence Growing evidence indicated conflicting results about the dopamine receptor D2 (D... BeFree 25500252 Detail
<0.001 Mental Depression The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.003 Marijuana Abuse Growing evidence indicated conflicting results about the dopamine receptor D2 (D... BeFree 25500252 Detail
0.004 Psychotic Disorders Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
0.007 major depressive disorder DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor ... BeFree 23683269 Detail
0.106 obesity The A1 allele of the TaqIA polymorphism in the dopamine D2 receptor gene (rs1800... BeFree 22541053 Detail
0.001 Eating Disorders We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.006 Psychotic Disorders Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
0.006 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
<0.001 alexithymia The present study hypothesized that DRD2/ANKK1 TaqI A (rs1800497) genotype would... BeFree 22728571 Detail
0.006 Eating Disorders We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.003 Nonorganic psychosis Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
<0.001 Unipolar Depression DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor ... BeFree 23683269 Detail
0.003 Eating Disorders We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
<0.001 depressive disorder The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.005 nicotine dependence Several SNPs (rs7131056, rs4274224, rs4648318, and rs6278) in DRD2, along with t... BeFree 18354387 Detail
0.010 Mental Depression The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.120 DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF NA CLINVAR Detail
0.122 Hypertensive disease Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497... BeFree 24379187 Detail
0.003 Bulimia We explored the influence of interactions between polymorphisms acting upon post... BeFree 22683321 Detail
0.037 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.002 drug dependence Growing evidence indicated conflicting results about the dopamine receptor D2 (D... BeFree 25500252 Detail
0.012 Nonorganic psychosis Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
<0.001 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 The DRD2 C:C genotype of rs6277 was associated with decreased general cognitive ... BeFree 20567893 Detail
<0.001 depressive disorder The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated wit... BeFree 23683269 Detail
0.032 Psychotic Disorders Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... BeFree 18351593 Detail
0.007 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.014 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.002 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.006 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.003 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND Taq1A POLYMORPHISM ClinVar Detail
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND not specified ClinVar Detail
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND Schizophrenia ClinVar Detail
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND ANKK1-related disorder ClinVar Detail
Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotro... DisGeNET Detail
Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotro... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymorphisms and schizophr... DisGeNET Detail
Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymorphisms and schizophr... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor binding in healthy c... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
[The role of DRD2 and NPY on alcohol dependence was also supported.] DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Association between ANKK1 (rs1800497) polymorphism of DRD2 gene and attention deficit hyperactivity ... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Association between ANKK1 (rs1800497) polymorphism of DRD2 gene and attention deficit hyperactivity ... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
Age, gender, Fagerström Test for Nicotine Dependence, dopamine pathway genotypes (rs1800497 [ANKK1 E... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
The DRD2 rs1800497 polymorphism increase the risk of mood disorder: evidence from an update meta-ana... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Identification of ANKK1 rs1800497 variant in schizophrenia: new data and meta-analysis. DisGeNET Detail
DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor binding in healthy c... DisGeNET Detail
The TaqIA single nucleotide polymorphism (SNP, rs1800497), which is located in the gene that codes f... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
On the basis of an analysis spanning the whole gene locus, from the DRD2 promoter to the ANKK1 rs180... DisGeNET Detail
Growing evidence indicated conflicting results about the dopamine receptor D2 (DRD2)/kinase domain c... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
Growing evidence indicated conflicting results about the dopamine receptor D2 (DRD2)/kinase domain c... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
Growing evidence indicated conflicting results about the dopamine receptor D2 (DRD2)/kinase domain c... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor binding in healthy c... DisGeNET Detail
The A1 allele of the TaqIA polymorphism in the dopamine D2 receptor gene (rs1800497) has been associ... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
The present study hypothesized that DRD2/ANKK1 TaqI A (rs1800497) genotype would moderate the relati... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
DRD2/ANKK1 Taq1A polymorphism (rs1800497) has opposing effects on D2/3 receptor binding in healthy c... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
Several SNPs (rs7131056, rs4274224, rs4648318, and rs6278) in DRD2, along with the Taq IA polymorphi... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
NA DisGeNET Detail
Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497) in the human DRD2 ... DisGeNET Detail
We explored the influence of interactions between polymorphisms acting upon postsynaptic receptors (... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Growing evidence indicated conflicting results about the dopamine receptor D2 (DRD2)/kinase domain c... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
The DRD2 C:C genotype of rs6277 was associated with decreased general cognitive ability 'g' (p = 0.0... DisGeNET Detail
The A1 allele of the DRD2/ANKK1 Taq1A polymorphism (rs1800497) is associated with reduced striatal D... DisGeNET Detail
Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800497 dbSNP
Genome
hg38
Position
chr11:113,400,106-113,400,106
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
105.74
Standard deviation of sample read depth (HGVD)
51.51
Number of reference allele (HGVD)
1503
Number of alternative allele (HGVD)
907
Allele Frequency (HGVD)
0.3763485477178423
Gene Symbol (HGVD)
ANKK1
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))
rs1800497
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3727
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6246
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7990
East Asian Allele Counts (ExAC)
3412
East Asian Heterozygous Counts (ExAC)
2038
East Asian Homozygous Counts (ExAC)
687
East Asian Allele Frequency (ExAC)
0.42703379224030036
Chromosome Counts in All Race (ExAC)
110734
Allele Counts in All Race (ExAC)
30556
Heterozygous Counts in All Race (ExAC)
21392
Homozygous Counts in All Race (ExAC)
4582
Allele Frequency in All Race (ExAC)
0.27594054220022757
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