chr6:43737486:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:43,737,486-43,737,486
hg38 chr6:43,769,749-43,769,749 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.691
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
0.007 Secondary malignant neoplasm of liver T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEG... BeFree 15522212 Detail
0.002 Adenocarcinoma of large intestine T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEG... BeFree 15522212 Detail
<0.001 hypothyroidism The presence of C-allele in rs833061 and the T-allele in rs3025039 polymorphism ... BeFree 22439647 Detail
0.207 Kidney Failure, Chronic Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.207 Diabetic Nephropathy Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.015 Kidney Failure, Chronic Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.147 Diabetic Nephropathy Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.043 Malignant neoplasm of lung rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VE... BeFree 25468805 Detail
0.020 Carcinoma of lung rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VE... BeFree 25468805 Detail
<0.001 colorectal cancer The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 Detail
0.054 colorectal cancer [The importance of -460 C/T and +405 G/C single nucleotide polymorphisms to the ... GAD 19904558 Detail
0.048 adenocarcinoma VEGF T-1498C polymorphism, a predictive marker of differentiation of colorectal ... BeFree 18414651 Detail
<0.001 colorectal carcinoma The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 Detail
0.002 colorectal cancer The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 Detail
0.009 Colorectal cancer metastatic We previously reported the association of VEGFA rs833061 C/T variants with PFS i... BeFree 23861747 Detail
0.003 colorectal carcinoma The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 Detail
Annotation

Annotations

DescrptionSourceLinks
T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEGF mRNA, and may be a... DisGeNET Detail
T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEGF mRNA, and may be a... DisGeNET Detail
The presence of C-allele in rs833061 and the T-allele in rs3025039 polymorphism of VEGFA were associ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VEGF) and associated l... DisGeNET Detail
rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VEGF) and associated l... DisGeNET Detail
The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotype... DisGeNET Detail
[The importance of -460 C/T and +405 G/C single nucleotide polymorphisms to the function of vascular... DisGeNET Detail
VEGF T-1498C polymorphism, a predictive marker of differentiation of colorectal adenocarcinomas in J... DisGeNET Detail
The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotype... DisGeNET Detail
The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotype... DisGeNET Detail
We previously reported the association of VEGFA rs833061 C/T variants with PFS in metastatic colorec... DisGeNET Detail
The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP and FLT1 GCA haplotype... DisGeNET Detail
Gene
-
dbSNP
rs833061 dbSNP
Genome
hg19
Position
chr6:43,737,486-43,737,486
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs833061
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6905
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11573
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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