chr2:112785383:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:113,542,960-113,542,960 View the variant detail on this assembly version.
hg38 chr2:112,785,383-112,785,383

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.105
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 Gingival Diseases We investigated associations between three IL1 single-nucleotide polymorphisms (... BeFree 24460370 Detail
0.029 Periodontal Diseases We investigated associations between three IL1 single-nucleotide polymorphisms (... BeFree 24460370 Detail
0.026 Degenerative polyarthritis Haplotype analyses revealed gender disparities and showed that women carriers of... BeFree 23216199 Detail
0.022 ankylosing spondylitis Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... BeFree 22285486 Detail
0.015 ankylosing spondylitis Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... BeFree 22285486 Detail
0.023 ankylosing spondylitis This study's purpose is to investigate the association of ankylosing spondylitis... BeFree 22285486 Detail
<0.001 Sensorineural Hearing Loss (disorder) The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (... BeFree 21385326 Detail
0.009 schizophrenia Neither combined nor stratified analyses found any association of the rs1800587 ... BeFree 20347268 Detail
0.003 schizophrenia Neither combined nor stratified analyses found any association of the rs1800587 ... BeFree 20347268 Detail
0.016 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.015 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.013 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.003 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
<0.001 Hernia The present data show that the IL-1α CT/TT genotype rs1800587 may be associated ... BeFree 24300227 Detail
0.001 depressive disorder Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific... BeFree 24103372 Detail
0.204 Pain The present data show that the IL-1α CT/TT genotype rs1800587 may be associated ... BeFree 24300227 Detail
<0.001 major depressive disorder The aim of this study was to investigate the effect of IL-1A rs1800587 genetic e... BeFree 24103372 Detail
<0.001 Hernia The present data show that the IL-1α CT/TT genotype rs1800587 may be associated ... BeFree 24300227 Detail
0.005 dementia Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific... BeFree 24103372 Detail
<0.001 Unipolar Depression The aim of this study was to investigate the effect of IL-1A rs1800587 genetic e... BeFree 24103372 Detail
0.002 Presenile dementia Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific... BeFree 24103372 Detail
<0.001 Radicular pain The interleukin-1α gene C&gt;T polymorphism rs1800587 is associated with increas... BeFree 24300227 Detail
0.028 Degenerative polyarthritis [To study the role of the interleukin-1 beta gene (IL1B) and the IL-1 receptor a... GAD 15077300 Detail
0.001 Mental Depression Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific... BeFree 24103372 Detail
<0.001 Pain The interleukin-1α gene C&gt;T polymorphism rs1800587 is associated with increas... BeFree 24300227 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated associations between three IL1 single-nucleotide polymorphisms (SNPs) in genes encod... DisGeNET Detail
We investigated associations between three IL1 single-nucleotide polymorphisms (SNPs) in genes encod... DisGeNET Detail
Haplotype analyses revealed gender disparities and showed that women carriers of the 1-2-1-1 haploty... DisGeNET Detail
Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... DisGeNET Detail
Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... DisGeNET Detail
This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleot... DisGeNET Detail
The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (IL1B) (-511C/T; rs16... DisGeNET Detail
Neither combined nor stratified analyses found any association of the rs1800587 (IL1A gene; T-889C) ... DisGeNET Detail
Neither combined nor stratified analyses found any association of the rs1800587 (IL1A gene; T-889C) ... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
The present data show that the IL-1α CT/TT genotype rs1800587 may be associated with increased pain ... DisGeNET Detail
Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific cognitive functions... DisGeNET Detail
The present data show that the IL-1α CT/TT genotype rs1800587 may be associated with increased pain ... DisGeNET Detail
The aim of this study was to investigate the effect of IL-1A rs1800587 genetic effects on cognitive ... DisGeNET Detail
The present data show that the IL-1α CT/TT genotype rs1800587 may be associated with increased pain ... DisGeNET Detail
Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific cognitive functions... DisGeNET Detail
The aim of this study was to investigate the effect of IL-1A rs1800587 genetic effects on cognitive ... DisGeNET Detail
Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific cognitive functions... DisGeNET Detail
The interleukin-1α gene C&gt;T polymorphism rs1800587 is associated with increased pain intensity an... DisGeNET Detail
[To study the role of the interleukin-1 beta gene (IL1B) and the IL-1 receptor antagonist gene (IL1R... DisGeNET Detail
Interleukin-1 alpha (rs1800587) genetic polymorphism is associated with specific cognitive functions... DisGeNET Detail
The interleukin-1α gene C&gt;T polymorphism rs1800587 is associated with increased pain intensity an... DisGeNET Detail
Gene
-
dbSNP
rs1800587 dbSNP
Genome
hg38
Position
chr2:112,785,383-112,785,383
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))
rs1800587
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1054
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1766
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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