chr6:38650628:T>G Detail (hg19) (GLO1)

Information

Genome

Assembly Position
hg19 chr6:38,650,628-38,650,628
hg38 chr6:38,682,852-38,682,852 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006708.2:c.332A>C NP_006699.2:p.Glu111Ala
Ensemble ENST00000373365.5:c.332A>C ENST00000373365.5:p.Glu111Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.071
ToMMo:0.056
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.130

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 138750 OMIM
HGNC 4323 HGNC
Ensembl ENSG00000124767 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25030206 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2010-12-30 no assertion criteria provided Autism, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Diabetes Mellitus, Non-Insulin-Dependent Here, we examine a possible association of a single nucleotide polymorphism of g... BeFree 23775136 Detail
0.126 autistic disorder Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates... BeFree 21491613 Detail
<0.001 Hodgkin Disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.009 multiple sclerosis Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility f... BeFree 17463067 Detail
<0.001 Cavernous Hemangioma of Brain The present study aimed to investigate the possible association of GLO1 A111E, P... BeFree 26122242 Detail
0.004 diabetes mellitus In a multiple regression analysis with GLO1 activity as the dependent variable, ... BeFree 23360186 Detail
0.003 Vascular Diseases The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.080 breast carcinoma Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk... BeFree 20712647 Detail
0.003 Diabetes In a multiple regression analysis with GLO1 activity as the dependent variable, ... BeFree 23360186 Detail
<0.001 Huntington disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
<0.001 Hodgkin Disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.001 Vascular Diseases The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.005 panic disorder Association analysis of the functional Ala111Glu polymorphism of the glyoxalase ... BeFree 16352396 Detail
0.001 Vascular Diseases The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.002 breast carcinoma Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. BeFree 19452310 Detail
<0.001 Huntington disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.009 Malignant neoplasm of breast Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. BeFree 19452310 Detail
<0.001 Huntington disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.009 Malignant neoplasm of breast Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk... BeFree 20712647 Detail
0.005 multiple sclerosis Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility f... BeFree 17463067 Detail
0.132 Malignant neoplasm of breast Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk... BeFree 20712647 Detail
<0.001 Hodgkin Disease The A419C (E111A) polymorphism of the GLO I gene is associated with vascular dis... BeFree 20185929 Detail
0.002 breast carcinoma Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk... BeFree 20712647 Detail
0.005 Kidney Failure, Chronic [In summary, our study shows for the first time a link between RAGE and GLO poly... GAD 20185929 Detail
<0.001 Atrial Septal Defects We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which enco... BeFree 25201284 Detail
0.002 uremia [In summary, our study shows for the first time a link between RAGE and GLO poly... GAD 20185929 Detail
<0.001 Autism Spectrum Disorders We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which enco... BeFree 25201284 Detail
<0.001 Endothelial dysfunction The aim of our study was to evaluate an association of FN3K (rs1056534, rs384840... BeFree 24908234 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala) AND Autism, susceptibility to, 1 ClinVar Detail
Here, we examine a possible association of a single nucleotide polymorphism of glyoxalase 1 gene (Gl... DisGeNET Detail
Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--im... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple s... DisGeNET Detail
The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M p... DisGeNET Detail
In a multiple regression analysis with GLO1 activity as the dependent variable, including the Ala111... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with... DisGeNET Detail
In a multiple regression analysis with GLO1 activity as the dependent variable, including the Ala111... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Association analysis of the functional Ala111Glu polymorphism of the glyoxalase I gene in panic diso... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with... DisGeNET Detail
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple s... DisGeNET Detail
Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with... DisGeNET Detail
The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis... DisGeNET Detail
Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with... DisGeNET Detail
[In summary, our study shows for the first time a link between RAGE and GLO polymorphisms in the pro... DisGeNET Detail
We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I... DisGeNET Detail
[In summary, our study shows for the first time a link between RAGE and GLO polymorphisms in the pro... DisGeNET Detail
We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I... DisGeNET Detail
The aim of our study was to evaluate an association of FN3K (rs1056534, rs3848403) and GLO1 rs4746 p... 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
rs4746 dbSNP
Genome
hg19
Position
chr6:38,650,628-38,650,628
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
79.79
Standard deviation of sample read depth (HGVD)
37.55
Number of reference allele (HGVD)
2248
Number of alternative allele (HGVD)
172
Allele Frequency (HGVD)
0.07107438016528926
Gene Symbol (HGVD)
GLO1
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))
rs4746
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0561
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
940
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1122
East Asian Heterozygous Counts (ExAC)
956
East Asian Homozygous Counts (ExAC)
83
East Asian Allele Frequency (ExAC)
0.12983105762554964
Chromosome Counts in All Race (ExAC)
121354
Allele Counts in All Race (ExAC)
43906
Heterozygous Counts in All Race (ExAC)
26640
Homozygous Counts in All Race (ExAC)
8633
Allele Frequency in All Race (ExAC)
0.36180101191555286
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