chr19:10395683:A>G Detail (hg19) (ICAM1)

Information

Genome

Assembly Position
hg19 chr19:10,395,683-10,395,683
hg38 chr19:10,285,007-10,285,007 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000201.2:c.1405A>G NP_000192.2:p.Lys469Glu
Ensemble ENST00000264832.8:c.1405A>G ENST00000264832.8:p.Lys469Glu
ENST00000423829.2:c.739A>G ENST00000423829.2:p.Lys247Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.396
ToMMo:0.395
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.288

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147840 OMIM
HGNC 5344 HGNC
Ensembl ENSG00000090339 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61160304 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-17 criteria provided, single submitter ICAM1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 Inflammatory Bowel Diseases The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... BeFree 16741608 Detail
0.218 myocardial infarction ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... BeFree 18057581 Detail
0.039 colorectal cancer We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... BeFree 16937502 Detail
0.003 acute promyelocytic leukemia The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PE... BeFree 17704297 Detail
0.007 colorectal carcinoma We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... BeFree 16937502 Detail
0.037 colorectal cancer We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... BeFree 16937502 Detail
0.397 Inflammatory Bowel Diseases The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... BeFree 16741608 Detail
0.017 coronary artery disease ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... BeFree 18057581 Detail
0.011 colorectal carcinoma We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... BeFree 16937502 Detail
<0.001 Graves Disease Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591... BeFree 23242661 Detail
0.006 acute promyelocytic leukemia The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PE... BeFree 17704297 Detail
0.016 Inflammatory Bowel Diseases In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R... BeFree 16570073 Detail
0.026 colorectal cancer We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), ... BeFree 16937502 Detail
0.013 Coronary Arteriosclerosis ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... BeFree 18057581 Detail
0.003 Thyroid associated opthalmopathies In order to study the association of G241R polymorphism of ICAM-1 gene with an e... BeFree 17873320 Detail
0.010 Coronary heart disease ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... BeFree 18057581 Detail
0.011 colorectal carcinoma We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), ... BeFree 16937502 Detail
0.144 atherosclerosis In conclusion, K469E polymorphism of the ICAM-1 gene had impact on plasma fibrin... BeFree 15736117 Detail
0.010 Coronary heart disease K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians wi... BeFree 20940515 Detail
0.017 coronary artery disease Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery... BeFree 25503951 Detail
0.002 colorectal carcinoma Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation o... BeFree 19822019 Detail
0.032 endometriosis Synergistic effect of interleukin-6 promoter (IL6 -634C/G) and intercellular adh... BeFree 16938116 Detail
0.007 colorectal cancer Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation o... BeFree 19822019 Detail
0.010 Ischemic stroke Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter a... BeFree 12637697 Detail
<0.001 Ischemic Cerebrovascular Accident Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter a... BeFree 12637697 Detail
0.006 Cholangitis, Sclerosing In addition, the E/E genotype of the K469E in ICAM-1 does not influence PSC susc... BeFree 16750586 Detail
0.016 Inflammatory Bowel Diseases Prevalence of the K469E polymorphism of intercellular adhesion molecule 1 gene i... BeFree 15334773 Detail
0.086 Diabetic Nephropathy Evaluation of the association between the common E469K polymorphism in the ICAM-... BeFree 18505543 Detail
0.135 multiple sclerosis Intercellular adhesion molecule-1 K469E polymorphism: study of association with ... BeFree 12590979 Detail
0.086 Diabetic Nephropathy A number of studies evaluated the association of intracellular adhesion molecule... BeFree 23922864 Detail
0.250 Diabetes Mellitus, Insulin-Dependent Linkage and association was not found between the ICAM-1 K469E variation and typ... BeFree 11132145 Detail
0.016 Inflammatory Bowel Diseases Association between K469E allele of intercellular adhesion molecule 1 gene and i... BeFree 12477764 Detail
0.007 Astrocytoma ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas... BeFree 19306055 Detail
0.010 Coronary heart disease Intercellular adhesion molecule 1 gene K469E polymorphism is associated with cor... BeFree 22203486 Detail
0.006 Ischemic stroke The K469E polymorphism of the ICAM-1 gene has recently been associated with isch... BeFree 17089918 Detail
<0.001 Ischemic Cerebrovascular Accident The K469E polymorphism of the ICAM-1 gene has recently been associated with isch... BeFree 17089918 Detail
0.007 arteriosclerosis In conclusion, K469E polymorphism of the ICAM-1 gene had impact on plasma fibrin... BeFree 15736117 Detail
0.013 Coronary Arteriosclerosis Intercellular adhesion molecule 1 gene K469E polymorphism is associated with cor... BeFree 22203486 Detail
<0.001 Peripheral arterial occlusive disease The K469E polymorphism of the ICAM-1 gene is a risk factor for peripheral arteri... BeFree 12192299 Detail
<0.001 proliferative diabetic retinopathy We may conclude that the EE genotype of the K469E polymorphism of the ICAM-1 mig... BeFree 18942221 Detail
0.017 coronary artery disease [Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk... GAD 19048183 Detail
0.088 Kidney Failure, Chronic The intercellular adhesion molecule-1 (ICAM-1) gene polymorphism K469E in end-st... BeFree 22609477 Detail
0.002 Carcinogenesis Our results suggest that the ICAM-1 rs5498 SNP and either of 2 haplotypes of 4 S... BeFree 24069166 Detail
0.006 Ischemic stroke Intercellular adhesion molecule-1 gene K469E polymorphism and ischemic stroke: a... BeFree 18791855 Detail
<0.001 Neurocysticercosis Association of ICAM-1 K469E polymorphism with neurocysticercosis. BeFree 25128351 Detail
0.002 Carcinogenesis ICAM-1 rs5498 likely confers a high risk for EOC in G allele carriers accompanie... BeFree 23933413 Detail
0.136 Cardiovascular Diseases The intercellular adhesion molecule-1 (ICAM-1) gene polymorphism K469E in end-st... BeFree 22609477 Detail
0.140 diabetic retinopathy Association between the ICAM-1 K469E polymorphism and diabetic retinopathy in Ty... BeFree 24612665 Detail
0.019 Diabetes Mellitus, Insulin-Dependent The intercellular adhesion molecule-1 K469E polymorphism in type 1 diabetes. BeFree 11132145 Detail
0.007 Ischemic Cerebrovascular Accident Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter a... BeFree 12637697 Detail
<0.001 kidney failure Our data suggest that the ICAM-1 K469E polymorphism is associated with CVD in ES... BeFree 22609477 Detail
<0.001 glioblastoma However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited ... BeFree 19306055 Detail
0.140 diabetic retinopathy A significantly higher frequency of the EE genotype of the K469E polymorphism of... BeFree 18942221 Detail
0.003 Graves Disease ICAM1 K469E and E-selectin S128R polymorphisms could predispose to increased aut... BeFree 23242661 Detail
0.134 Behcet Syndrome Intercellular adhesion molecule 1 K469E gene polymorphism is associated with pre... BeFree 19906207 Detail
0.006 Ischemic stroke Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter a... BeFree 12637697 Detail
0.135 malaria Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele ... BeFree 19055786 Detail
<0.001 Aneurysm, Dissecting The ICAM-1 E469K gene polymorphism is a risk factor for spontaneous cervical art... BeFree 16636253 Detail
<0.001 Ischemic Cerebrovascular Accident Intercellular adhesion molecule-1 gene K469E polymorphism and ischemic stroke: a... BeFree 18791855 Detail
0.017 coronary artery disease Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery di... BeFree 21987404 Detail
0.136 Cardiovascular Diseases We examined the association of the ICAM-1 K469E gene variant and plasma sICAM-1 ... BeFree 15682683 Detail
0.140 diabetic retinopathy The ICAM-1 gene K469E polymorphism is associated with diabetic retinopathy in Ch... BeFree 16759306 Detail
0.010 Coronary heart disease Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery di... BeFree 21987404 Detail
0.013 Coronary Arteriosclerosis Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk ... BeFree 19048183 Detail
0.013 Coronary Arteriosclerosis Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery... BeFree 25503951 Detail
0.006 Graves Disease ICAM1 K469E and E-selectin S128R polymorphisms could predispose to increased aut... BeFree 23242661 Detail
0.371 Diabetes Mellitus, Insulin-Dependent Linkage and association was not found between the ICAM-1 K469E variation and typ... BeFree 11132145 Detail
0.140 diabetic retinopathy A number of studies evaluated the association of intracellular adhesion molecule... BeFree 23922864 Detail
0.017 coronary artery disease Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk ... BeFree 19048183 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent We may conclude that the EE genotype of the K469E polymorphism of the ICAM-1 mig... BeFree 18942221 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The K469E polymorphism of the intercellular adhesion molecule-1 gene is associat... BeFree 15736117 Detail
0.010 Coronary heart disease Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk ... BeFree 19048183 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent Association between the ICAM-1 K469E polymorphism and diabetic retinopathy in Ty... BeFree 24612665 Detail
0.003 Astrocytoma ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas... BeFree 19306055 Detail
0.010 Coronary heart disease Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery... BeFree 25503951 Detail
<0.001 Non-small cell lung carcinoma The single nucleotide polymorphism g.1548A &gt;G (K469E) of the ICAM-1 gene is a... BeFree 22562265 Detail
0.007 Inflammatory Bowel Diseases The frequency of well-known mutations (R702W, G908W and 1007fs in the NOD2 gene;... BeFree 18647548 Detail
0.023 endometriosis Synergistic effect of interleukin-6 promoter (IL6 -634C/G) and intercellular adh... BeFree 16938116 Detail
0.013 Coronary Arteriosclerosis Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery di... BeFree 21987404 Detail
0.218 asthma ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma an... BeFree 16625213 Detail
0.013 Coronary Arteriosclerosis K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians wi... BeFree 20940515 Detail
0.005 Restenosis Polymorphism K469E of intercellular adhesion molecule-1 gene and restenosis afte... BeFree 14975197 Detail
0.009 Coronary Arteriosclerosis When analyzing the clinical risk factors for coronary atherosclerosis, we found ... BeFree 25310099 Detail
0.016 Inflammatory Bowel Diseases The polymorphisms K469E and G261R of intercellular adhesion molecule-1 and susce... BeFree 25942347 Detail
0.134 malaria Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele ... BeFree 19055786 Detail
<0.001 diffuse astrocytoma However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited ... BeFree 19306055 Detail
<0.001 Malignant neoplasm of breast Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not IC... BeFree 23079714 Detail
0.006 Malignant neoplasm of breast Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not IC... BeFree 23079714 Detail
<0.001 breast carcinoma Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not IC... BeFree 23079714 Detail
0.004 breast carcinoma Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not IC... BeFree 23079714 Detail
0.001 Chronic graft-versus-host disease We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs11... BeFree 22646485 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000201.3(ICAM1):c.1405A>G (p.Lys469Glu) AND ICAM1-related disorder ClinVar Detail
The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... DisGeNET Detail
ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V)... DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... DisGeNET Detail
ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E... DisGeNET Detail
The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V)... DisGeNET Detail
In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R102G and L314P) and ... DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. DisGeNET Detail
In order to study the association of G241R polymorphism of ICAM-1 gene with an earlier onset of Grav... DisGeNET Detail
ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. DisGeNET Detail
We studied the association of SNPs in the IL-6 (-174G&gt;C), IL-8 (-251T&gt;A), TNFalpha (-308G&gt;A... DisGeNET Detail
In conclusion, K469E polymorphism of the ICAM-1 gene had impact on plasma fibrinogen level independe... DisGeNET Detail
K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians with coronary heart di... DisGeNET Detail
Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery disease: a meta-ana... DisGeNET Detail
Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation of colorectal cancer. DisGeNET Detail
Synergistic effect of interleukin-6 promoter (IL6 -634C/G) and intercellular adhesion molecule-1 (IC... DisGeNET Detail
Polymorphisms of the ICAM-1 exon 6 (E469K) are associated with differentiation of colorectal cancer. DisGeNET Detail
Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter and 469 E/K polymorph... DisGeNET Detail
Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter and 469 E/K polymorph... DisGeNET Detail
In addition, the E/E genotype of the K469E in ICAM-1 does not influence PSC susceptibility in Scandi... DisGeNET Detail
Prevalence of the K469E polymorphism of intercellular adhesion molecule 1 gene in Italian patients w... DisGeNET Detail
Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic ... DisGeNET Detail
Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis. DisGeNET Detail
A number of studies evaluated the association of intracellular adhesion molecule-1 (ICAM-1) K469E (r... DisGeNET Detail
Linkage and association was not found between the ICAM-1 K469E variation and type 1 diabetes in Dani... DisGeNET Detail
Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel di... DisGeNET Detail
ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. DisGeNET Detail
Intercellular adhesion molecule 1 gene K469E polymorphism is associated with coronary heart disease ... DisGeNET Detail
The K469E polymorphism of the ICAM-1 gene has recently been associated with ischemic stroke, atheros... DisGeNET Detail
The K469E polymorphism of the ICAM-1 gene has recently been associated with ischemic stroke, atheros... DisGeNET Detail
In conclusion, K469E polymorphism of the ICAM-1 gene had impact on plasma fibrinogen level independe... DisGeNET Detail
Intercellular adhesion molecule 1 gene K469E polymorphism is associated with coronary heart disease ... DisGeNET Detail
The K469E polymorphism of the ICAM-1 gene is a risk factor for peripheral arterial occlusive disease... DisGeNET Detail
We may conclude that the EE genotype of the K469E polymorphism of the ICAM-1 might be a risk factor ... DisGeNET Detail
[Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence s... DisGeNET Detail
The intercellular adhesion molecule-1 (ICAM-1) gene polymorphism K469E in end-stage renal disease pa... DisGeNET Detail
Our results suggest that the ICAM-1 rs5498 SNP and either of 2 haplotypes of 4 SNPs combined have po... DisGeNET Detail
Intercellular adhesion molecule-1 gene K469E polymorphism and ischemic stroke: a case-control study ... DisGeNET Detail
Association of ICAM-1 K469E polymorphism with neurocysticercosis. DisGeNET Detail
ICAM-1 rs5498 likely confers a high risk for EOC in G allele carriers accompanied by up-regulation o... DisGeNET Detail
The intercellular adhesion molecule-1 (ICAM-1) gene polymorphism K469E in end-stage renal disease pa... DisGeNET Detail
Association between the ICAM-1 K469E polymorphism and diabetic retinopathy in Type 2 diabetes mellit... DisGeNET Detail
The intercellular adhesion molecule-1 K469E polymorphism in type 1 diabetes. DisGeNET Detail
Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter and 469 E/K polymorph... DisGeNET Detail
Our data suggest that the ICAM-1 K469E polymorphism is associated with CVD in ESRD patients. DisGeNET Detail
However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited higher frequency in ... DisGeNET Detail
A significantly higher frequency of the EE genotype of the K469E polymorphism of the ICAM-1 was foun... DisGeNET Detail
ICAM1 K469E and E-selectin S128R polymorphisms could predispose to increased autoantibody production... DisGeNET Detail
Intercellular adhesion molecule 1 K469E gene polymorphism is associated with presence of skin lesion... DisGeNET Detail
Synergistic effect of -174 G/C polymorphism of the interleukin-6 gene promoter and 469 E/K polymorph... DisGeNET Detail
Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele with increased risk ... DisGeNET Detail
The ICAM-1 E469K gene polymorphism is a risk factor for spontaneous cervical artery dissection. DisGeNET Detail
Intercellular adhesion molecule-1 gene K469E polymorphism and ischemic stroke: a case-control study ... DisGeNET Detail
Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery disease in the Chinese... DisGeNET Detail
We examined the association of the ICAM-1 K469E gene variant and plasma sICAM-1 with coronary artery... DisGeNET Detail
The ICAM-1 gene K469E polymorphism is associated with diabetic retinopathy in Chinese patients with ... DisGeNET Detail
Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery disease in the Chinese... DisGeNET Detail
Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence su... DisGeNET Detail
Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery disease: a meta-ana... DisGeNET Detail
ICAM1 K469E and E-selectin S128R polymorphisms could predispose to increased autoantibody production... DisGeNET Detail
Linkage and association was not found between the ICAM-1 K469E variation and type 1 diabetes in Dani... DisGeNET Detail
A number of studies evaluated the association of intracellular adhesion molecule-1 (ICAM-1) K469E (r... DisGeNET Detail
Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence su... DisGeNET Detail
We may conclude that the EE genotype of the K469E polymorphism of the ICAM-1 might be a risk factor ... DisGeNET Detail
The K469E polymorphism of the intercellular adhesion molecule-1 gene is associated with plasma fibri... DisGeNET Detail
Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence su... DisGeNET Detail
Association between the ICAM-1 K469E polymorphism and diabetic retinopathy in Type 2 diabetes mellit... DisGeNET Detail
ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. DisGeNET Detail
Intercellular adhesion molecule-1 K469E polymorphism and risk of coronary artery disease: a meta-ana... DisGeNET Detail
The single nucleotide polymorphism g.1548A &gt;G (K469E) of the ICAM-1 gene is associated with worse... DisGeNET Detail
The frequency of well-known mutations (R702W, G908W and 1007fs in the NOD2 gene; K469E in the ICAM-1... DisGeNET Detail
Synergistic effect of interleukin-6 promoter (IL6 -634C/G) and intercellular adhesion molecule-1 (IC... DisGeNET Detail
Intercellular adhesion molecule-1 E469K gene polymorphism and coronary artery disease in the Chinese... DisGeNET Detail
ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 le... DisGeNET Detail
K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians with coronary heart di... DisGeNET Detail
Polymorphism K469E of intercellular adhesion molecule-1 gene and restenosis after coronary stenting ... DisGeNET Detail
When analyzing the clinical risk factors for coronary atherosclerosis, we found that the rs5498 locu... DisGeNET Detail
The polymorphisms K469E and G261R of intercellular adhesion molecule-1 and susceptibility to inflamm... DisGeNET Detail
Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele with increased risk ... DisGeNET Detail
However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited higher frequency in ... DisGeNET Detail
Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphi... DisGeNET Detail
Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphi... DisGeNET Detail
Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphi... DisGeNET Detail
Our meta-analysis suggests that the ICAM5 V301I and rs281439 variants but not ICAM1 K469E polymorphi... DisGeNET Detail
We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs1131012) and SELL (rs2... 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
hg19
Position
chr19:10,395,683-10,395,683
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
73.48
Standard deviation of sample read depth (HGVD)
35.49
Number of reference allele (HGVD)
1446
Number of alternative allele (HGVD)
949
Allele Frequency (HGVD)
0.3962421711899791
Gene Symbol (HGVD)
ICAM1
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))
rs5498
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3952
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6622
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
2480
East Asian Heterozygous Counts (ExAC)
1784
East Asian Homozygous Counts (ExAC)
348
East Asian Allele Frequency (ExAC)
0.2881710434580525
Chromosome Counts in All Race (ExAC)
121046
Allele Counts in All Race (ExAC)
51815
Heterozygous Counts in All Race (ExAC)
28229
Homozygous Counts in All Race (ExAC)
11793
Allele Frequency in All Race (ExAC)
0.4280604067875023
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