chr6:32151443:C>T Detail (hg19) (AGER)

Information

Genome

Assembly Position
hg19 chr6:32,151,443-32,151,443
hg38 chr6:32,183,666-32,183,666 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_172197.2:c.202G>A NP_751947.1:p.Gly68Ser
NM_001206929.1:c.244G>A NP_001193858.1:p.Gly82Ser
NM_001136.4:c.244G>A NP_001127.1:p.Gly82Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.148
ToMMo:0.155
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.202

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600214 OMIM
HGNC 320 HGNC
Ensembl ENSG00000204305 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24818275 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-08-10 no assertion criteria provided COPD, severe early onset germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 diabetes mellitus Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d... BeFree 24742661 Detail
0.003 Diabetes Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d... BeFree 24742661 Detail
0.104 Diabetes Mellitus, Non-Insulin-Dependent The -429 T/C and Gly82Ser RAGE polymorphisms were found to be significantly asso... BeFree 24418399 Detail
0.003 Coronary heart disease Is there any association between GLY82 ser polymorphism of rage gene and Turkish... BeFree 21947881 Detail
0.045 Diabetes Mellitus, Insulin-Dependent Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in typ... BeFree 10553500 Detail
0.012 Microalbuminuria Polymorphisms G1704T and G82S of the RAGE gene were examined with genomic DNA ob... BeFree 15798956 Detail
0.096 Alzheimer's disease [Association of the RAGE G82S polymorphism with Alzheimer\'s disease.] GAD 20567859 Detail
0.125 Pulmonary function (finding) Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies... GWASCAT 23284291 Detail
0.088 Cerebrovascular accident Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was... BeFree 24107402 Detail
<0.001 Microalbuminuria Association study of G1704T and G82S polymorphisms of RAGE gene for microalbumin... BeFree 15798956 Detail
<0.001 Vascular inflammations Moreover, a remarkable association of the G82S variant with serum CRP levels imp... BeFree 20668462 Detail
0.275 Diabetes Mellitus, Insulin-Dependent Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in typ... BeFree 10553500 Detail
0.129 Diabetic Angiopathies The study was designed to evaluate the association of -374T/A and -429T/C polymo... BeFree 24418399 Detail
0.001 Retinal Diseases Lack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorph... BeFree 22427038 Detail
<0.001 Vascular inflammations Moreover, a remarkable association of the G82S variant with serum CRP levels imp... BeFree 20668462 Detail
0.003 Coronary heart disease Association of AGER gene G82S polymorphism with the severity of coronary artery ... BeFree 21521347 Detail
0.003 Coronary Arteriosclerosis Is there any association between GLY82 ser polymorphism of rage gene and Turkish... BeFree 21947881 Detail
0.008 Diabetes Mellitus, Insulin-Dependent Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in typ... BeFree 10553500 Detail
<0.001 colorectal cancer In conclusion, the RAGE gene Gly82Ser polymorphism may confer not only an increa... BeFree 24248547 Detail
0.102 diabetic retinopathy G82S polymorphism in the RAGE gene is associated with DR and G-A haplotype conta... BeFree 19542745 Detail
0.125 Pulmonary function (finding) [Meta-analyses of genome-wide association studies identify multiple loci associa... GAD 20010835 Detail
0.002 Vascular inflammations Moreover, a remarkable association of the G82S variant with serum CRP levels imp... BeFree 20668462 Detail
0.125 Pulmonary function (finding) Genome-wide association study identifies five loci associated with lung function... GWASCAT 20010834 Detail
0.017 coronary artery disease Association of AGER gene G82S polymorphism with the severity of coronary artery ... BeFree 21521347 Detail
0.104 Diabetes Mellitus, Non-Insulin-Dependent To investigate the association between diabetic retinopathy (DR) in type 2 diabe... BeFree 22354095 Detail
0.002 Pulmonary function (finding) [Meta-analyses of genome-wide association studies identify multiple loci associa... GAD 20010835 Detail
0.102 diabetic retinopathy Relation between polymorphisms G1704T and G82S of rage gene and diabetic retinop... BeFree 15942086 Detail
0.125 Pulmonary function (finding) Meta-analyses of genome-wide association studies identify multiple loci associat... GWASCAT 20010835 Detail
<0.001 Ischemic stroke Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was... BeFree 24107402 Detail
0.081 Hypertensive disease The allele frequencies and genotype distribution combinations of the -429T/C, 17... BeFree 20668462 Detail
0.102 diabetic retinopathy The findings suggest that the G82S polymorphism in the RAGE gene is associated w... BeFree 24303504 Detail
0.102 diabetic retinopathy Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy ... BeFree 12477623 Detail
0.104 Diabetes Mellitus, Non-Insulin-Dependent This study aims to investigate the frequency of Gly82Ser polymorphism in exon 3 ... BeFree 12477623 Detail
0.125 Pulmonary function (finding) [Genome-wide association study identifies five loci associated with lung functio... GAD 20010834 Detail
<0.001 Ischemic Cerebrovascular Accident Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was... BeFree 24107402 Detail
0.017 coronary artery disease Is there any association between GLY82 ser polymorphism of rage gene and Turkish... BeFree 21947881 Detail
0.003 Coronary Arteriosclerosis Association of AGER gene G82S polymorphism with the severity of coronary artery ... BeFree 21521347 Detail
0.021 asthma We observed the most significant association with adult asthma at rs404860 in th... BeFree 21804548 Detail
0.088 Cerebrovascular accident NA GAD Detail
0.102 diabetic retinopathy To investigate the association between diabetic retinopathy (DR) in type 2 diabe... BeFree 22354095 Detail
0.003 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
<0.001 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
0.248 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001136.5(AGER):c.244G>A (p.Gly82Ser) AND COPD, severe early onset ClinVar Detail
Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070... DisGeNET Detail
Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070... DisGeNET Detail
The -429 T/C and Gly82Ser RAGE polymorphisms were found to be significantly associated with the deve... DisGeNET Detail
Is there any association between GLY82 ser polymorphism of rage gene and Turkish diabetic and non di... DisGeNET Detail
Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes. DisGeNET Detail
Polymorphisms G1704T and G82S of the RAGE gene were examined with genomic DNA obtained from 116 type... DisGeNET Detail
[Association of the RAGE G82S polymorphism with Alzheimer\'s disease.] DisGeNET Detail
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulm... DisGeNET Detail
Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was associated with the... DisGeNET Detail
Association study of G1704T and G82S polymorphisms of RAGE gene for microalbuminuria in Japanese typ... DisGeNET Detail
Moreover, a remarkable association of the G82S variant with serum CRP levels implied that the preval... DisGeNET Detail
Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes. DisGeNET Detail
The study was designed to evaluate the association of -374T/A and -429T/C polymorphism in the promot... DisGeNET Detail
Lack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorphisms and retinopathy... DisGeNET Detail
Moreover, a remarkable association of the G82S variant with serum CRP levels implied that the preval... DisGeNET Detail
Association of AGER gene G82S polymorphism with the severity of coronary artery disease in Chinese H... DisGeNET Detail
Is there any association between GLY82 ser polymorphism of rage gene and Turkish diabetic and non di... DisGeNET Detail
Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes. DisGeNET Detail
In conclusion, the RAGE gene Gly82Ser polymorphism may confer not only an increased risk of CRC but ... DisGeNET Detail
G82S polymorphism in the RAGE gene is associated with DR and G-A haplotype containing 1704G and 82S ... DisGeNET Detail
[Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary f... DisGeNET Detail
Moreover, a remarkable association of the G82S variant with serum CRP levels implied that the preval... DisGeNET Detail
Genome-wide association study identifies five loci associated with lung function. DisGeNET Detail
Association of AGER gene G82S polymorphism with the severity of coronary artery disease in Chinese H... DisGeNET Detail
To investigate the association between diabetic retinopathy (DR) in type 2 diabetes mellitus and thr... DisGeNET Detail
[Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary f... DisGeNET Detail
Relation between polymorphisms G1704T and G82S of rage gene and diabetic retinopathy in Japanese typ... DisGeNET Detail
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary fu... DisGeNET Detail
Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was associated with the... DisGeNET Detail
The allele frequencies and genotype distribution combinations of the -429T/C, 1704G/T and G82S polym... DisGeNET Detail
The findings suggest that the G82S polymorphism in the RAGE gene is associated with DR risk, and G82... DisGeNET Detail
Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy in type II diabetic ... DisGeNET Detail
This study aims to investigate the frequency of Gly82Ser polymorphism in exon 3 of the receptor for ... DisGeNET Detail
[Genome-wide association study identifies five loci associated with lung function.] DisGeNET Detail
Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was associated with the... DisGeNET Detail
Is there any association between GLY82 ser polymorphism of rage gene and Turkish diabetic and non di... DisGeNET Detail
Association of AGER gene G82S polymorphism with the severity of coronary artery disease in Chinese H... DisGeNET Detail
We observed the most significant association with adult asthma at rs404860 in the major histocompati... DisGeNET Detail
NA DisGeNET Detail
To investigate the association between diabetic retinopathy (DR) in type 2 diabetes mellitus and thr... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... 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
chr6:32,151,443-32,151,443
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1162
Mean of sample read depth (HGVD)
51.40
Standard deviation of sample read depth (HGVD)
24.57
Number of reference allele (HGVD)
1980
Number of alternative allele (HGVD)
344
Allele Frequency (HGVD)
0.14802065404475043
Gene Symbol (HGVD)
AGER
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))
rs2070600
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1546
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2591
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8490
East Asian Allele Counts (ExAC)
1717
East Asian Heterozygous Counts (ExAC)
1349
East Asian Homozygous Counts (ExAC)
184
East Asian Allele Frequency (ExAC)
0.2022379269729093
Chromosome Counts in All Race (ExAC)
115816
Allele Counts in All Race (ExAC)
6188
Heterozygous Counts in All Race (ExAC)
5576
Homozygous Counts in All Race (ExAC)
306
Allele Frequency in All Race (ExAC)
0.05342957795123299
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