chr12:121184393:A>G Detail (hg38) (P2RX7)

Information

Genome

Assembly Position
hg19 chr12:121,622,196-121,622,196 View the variant detail on this assembly version.
hg38 chr12:121,184,393-121,184,393

HGVS

Type Transcript Protein
RefSeq NM_002562.5:c.1379A>G NP_002553.3:p.Gln460Arg
NR_033951.1:c.1379A>G
Ensemble ENST00000328963.10:c.1379A>G ENST00000328963.10:p.Gln460Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602566 OMIM
HGNC 8537 HGNC
Ensembl ENSG00000089041 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47506823 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
0.127 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.082 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.026 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.013 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.088 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.018 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.087 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.003 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.004 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.020 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.033 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.038 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.043 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.007 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.003 Mood Disorders In the current study the genetic effects of rs2230912 (Gln460Arg) and rs1653625 ... BeFree 23602648 Detail
0.003 major depressive disorder The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.003 Unipolar Depression The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.003 Mood Disorders Additional studies are needed to clarify the potential involvement of P2RX7 and ... BeFree 19330776 Detail
0.009 Mental Depression P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patien... BeFree 18801407 Detail
0.013 bipolar disorder A non-synonymous coding SNP in the P2RX7 gene (rs2230912), previously found to b... BeFree 16822851 Detail
0.009 Mental Depression Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a d... BeFree 18543274 Detail
0.013 bipolar disorder The P2RX7 (purinergic receptor P2X, ligand-gated ion channel, 7) gene has been s... BeFree 20446288 Detail
<0.001 Recurrent major depressive episodes A non-synonymous coding SNP in the P2RX7 gene (rs2230912), previously found to b... BeFree 16822851 Detail
<0.001 bronchopulmonary dysplasia After correction for multiple testing, the association between rs2230912 and HAD... BeFree 23602648 Detail
0.003 Mood Disorders Our data do not provide support for rs2230912 or the other polymorphisms studied... BeFree 19160446 Detail
0.003 Mood Disorders Lack of association of P2RX7 gene rs2230912 polymorphism with mood disorders: a ... BeFree 24533115 Detail
0.002 depressive disorder Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a d... BeFree 18543274 Detail
<0.001 Depressive Symptoms After correcting for multiple testing, only the association of the P2RX7 Gln460A... BeFree 18801407 Detail
0.013 bipolar disorder We have confirmed the allelic associations between bipolar disorder and the mark... BeFree 18268501 Detail
<0.001 borderline personality disorder After correction for multiple testing, the association between rs2230912 and HAD... BeFree 23602648 Detail
0.002 depressive disorder P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patien... BeFree 18801407 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
In the current study the genetic effects of rs2230912 (Gln460Arg) and rs1653625 (located in the 3' u... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
Additional studies are needed to clarify the potential involvement of P2RX7 and of SNP rs2230912 in ... DisGeNET Detail
P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patients. DisGeNET Detail
A non-synonymous coding SNP in the P2RX7 gene (rs2230912), previously found to be associated with bi... DisGeNET Detail
Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach. DisGeNET Detail
The P2RX7 (purinergic receptor P2X, ligand-gated ion channel, 7) gene has been suggested as a candid... DisGeNET Detail
A non-synonymous coding SNP in the P2RX7 gene (rs2230912), previously found to be associated with bi... DisGeNET Detail
After correction for multiple testing, the association between rs2230912 and HADS-depression score r... DisGeNET Detail
Our data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 lo... DisGeNET Detail
Lack of association of P2RX7 gene rs2230912 polymorphism with mood disorders: a meta-analysis. DisGeNET Detail
Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach. DisGeNET Detail
After correcting for multiple testing, only the association of the P2RX7 Gln460Arg (rs2230912) polym... DisGeNET Detail
We have confirmed the allelic associations between bipolar disorder and the markers rs2230912 (P2RX7... DisGeNET Detail
After correction for multiple testing, the association between rs2230912 and HADS-depression score r... DisGeNET Detail
P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patients. 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
-
Genome
hg38
Position
chr12:121,184,393-121,184,393
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
91.39
Standard deviation of sample read depth (HGVD)
43.90
Number of reference allele (HGVD)
2416
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.271298593879239E-4
Gene Symbol (HGVD)
P2RX7
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))
rs2230912
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8592
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121110
Allele Counts in All Race (ExAC)
15963
Heterozygous Counts in All Race (ExAC)
13487
Homozygous Counts in All Race (ExAC)
1238
Allele Frequency in All Race (ExAC)
0.13180579638345305
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