chr6:43770613:C>G Detail (hg38) (VEGFA, POLR1C)

Information

Genome

Assembly Position
hg19 chr6:43,738,350-43,738,350 View the variant detail on this assembly version.
hg38 chr6:43,770,613-43,770,613

HGVS

Type Transcript Protein
RefSeq NM_001025366.2:c.-94C>G
NM_001025367.2:c.-94C>G
NM_001025368.2:c.-94C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.562
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 192240 OMIM
HGNC 12680 HGNC
Ensembl ENSG00000112715 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25179367 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2002-05-01 no assertion criteria provided Microvascular complications of diabetes, susceptibility to, 1 germline Detail
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Lip and oral cavity carcinoma In this study, we examined whether individual polymorphisms within VEGF-A gene, ... BeFree 22818823 Detail
0.009 Malignant neoplasm of mouth In this study, we examined whether individual polymorphisms within VEGF-A gene, ... BeFree 22818823 Detail
<0.001 Cancer of Digestive System VEGF +405G/C (rs2010963) polymorphisms and digestive system cancer risk: a meta-... BeFree 24474253 Detail
0.008 proliferative diabetic retinopathy Among Chinese Han individuals with type-2 DM, polymorphism -634G/C of the VEGF g... BeFree 25217793 Detail
0.029 Malignant neoplasm of stomach VEGFA+936C/T and -634G/C polymorphisms and gastric cancer risk: a meta-analysis. BeFree 22292637 Detail
0.065 breast carcinoma The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer... BeFree 26067906 Detail
0.162 glioblastoma VEGFA SNP rs2010963 is associated with vascular toxicity in recurrent glioblasto... BeFree 25488073 Detail
0.008 proliferative diabetic retinopathy Our meta-analysis does not support the association of the VEGF -634C/G polymorph... BeFree 20591524 Detail
0.240 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) NA CLINVAR Detail
<0.001 Conventional (Clear Cell) Renal Cell Carcinoma Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated wit... BeFree 25239121 Detail
<0.001 Autoimmune Diseases Association between VEGF -634G/C polymorphism and susceptibility to autoimmune d... BeFree 25596346 Detail
0.027 stomach carcinoma VEGFA+936C/T and -634G/C polymorphisms and gastric cancer risk: a meta-analysis. BeFree 22292637 Detail
0.007 Conventional (Clear Cell) Renal Cell Carcinoma Furthermore, rs2010963 is a functional SNP that may affect ccRCC susceptibility ... BeFree 25239121 Detail
0.210 diabetic retinopathy Our meta-analysis does not support the association of the VEGF -634C/G polymorph... BeFree 20591524 Detail
0.043 Malignant neoplasm of lung Vascular endothelial growth factor -634G/C and vascular endothelial growth facto... BeFree 24146275 Detail
0.065 breast carcinoma Vascular endothelial growth factor gene polymorphism (-634G/C) and breast cancer... BeFree 24816918 Detail
0.001 Nonproliferative diabetic retinopathy Among Chinese Han individuals with type-2 DM, polymorphism -634G/C of the VEGF g... BeFree 25217793 Detail
0.006 Neurodegenerative Disorders The aim of the current study is first to demonstrate whether there is an associa... BeFree 21334418 Detail
0.105 Malignant neoplasm of breast Vascular endothelial growth factor gene polymorphism (-634G/C) and breast cancer... BeFree 24816918 Detail
0.210 diabetic retinopathy Association of vascular endothelial growth factor -634C/G polymorphism and diabe... BeFree 20801867 Detail
0.020 Carcinoma of lung Vascular endothelial growth factor -634G/C and vascular endothelial growth facto... BeFree 24146275 Detail
0.105 Malignant neoplasm of breast The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer... BeFree 26067906 Detail
0.263 Neoplasm Metastasis The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer... BeFree 26067906 Detail
0.135 Retinal Diseases However, our study indicated that DR patients have higher VEGF levels than diabe... BeFree 24534217 Detail
0.150 coronary artery disease A significantly higher frequency of the CC genotype of the -634 C/G VEGF polymor... BeFree 17264508 Detail
0.003 Squamous cell carcinoma of esophagus VEGF -634C/G genotype is predictive of long-term survival after treatment with a... BeFree 23155356 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent Association between the -634C/G polymorphisms of the vascular endothelial growth... BeFree 20591524 Detail
0.135 Retinal Diseases Association between the -634C/G polymorphisms of the vascular endothelial growth... BeFree 20591524 Detail
0.210 diabetic retinopathy Two polymorphisms (rs699947, rs2010963) in the VEGFA gene and diabetic retinopat... BeFree 24131746 Detail
0.021 colon carcinoma After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
0.018 Malignant tumor of colon After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
<0.001 Colonic Neoplasms After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
0.239 Colonic Neoplasms After stratifying by tumor molecular subtype, SNP associations observed for colo... BeFree 23794399 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003376.6(VEGFA):c.-94C>G AND Microvascular complications of diabetes, susceptibility to, 1 ClinVar Detail
NM_003376.6(VEGFA):c.-94C>G AND not provided ClinVar Detail
In this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A),... DisGeNET Detail
In this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A),... DisGeNET Detail
VEGF +405G/C (rs2010963) polymorphisms and digestive system cancer risk: a meta-analysis. DisGeNET Detail
Among Chinese Han individuals with type-2 DM, polymorphism -634G/C of the VEGF gene was not correlat... DisGeNET Detail
VEGFA+936C/T and -634G/C polymorphisms and gastric cancer risk: a meta-analysis. DisGeNET Detail
The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer Susceptibility, Tum... DisGeNET Detail
VEGFA SNP rs2010963 is associated with vascular toxicity in recurrent glioblastomas and longer respo... DisGeNET Detail
Our meta-analysis does not support the association of the VEGF -634C/G polymorphism with DR and PDR. DisGeNET Detail
NA DisGeNET Detail
Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated with risk of ccRCC. DisGeNET Detail
Association between VEGF -634G/C polymorphism and susceptibility to autoimmune diseases: a meta-anal... DisGeNET Detail
VEGFA+936C/T and -634G/C polymorphisms and gastric cancer risk: a meta-analysis. DisGeNET Detail
Furthermore, rs2010963 is a functional SNP that may affect ccRCC susceptibility by modulating endoge... DisGeNET Detail
Our meta-analysis does not support the association of the VEGF -634C/G polymorphism with DR and PDR. DisGeNET Detail
Vascular endothelial growth factor -634G/C and vascular endothelial growth factor -2578C/A polymorph... DisGeNET Detail
Vascular endothelial growth factor gene polymorphism (-634G/C) and breast cancer risk. DisGeNET Detail
Among Chinese Han individuals with type-2 DM, polymorphism -634G/C of the VEGF gene was not correlat... DisGeNET Detail
The aim of the current study is first to demonstrate whether there is an association between the thr... DisGeNET Detail
Vascular endothelial growth factor gene polymorphism (-634G/C) and breast cancer risk. DisGeNET Detail
Association of vascular endothelial growth factor -634C/G polymorphism and diabetic retinopathy in t... DisGeNET Detail
Vascular endothelial growth factor -634G/C and vascular endothelial growth factor -2578C/A polymorph... DisGeNET Detail
The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer Susceptibility, Tum... DisGeNET Detail
The Association Between VEGF +936C/T and -634G/C Polymorphisms and Breast Cancer Susceptibility, Tum... DisGeNET Detail
However, our study indicated that DR patients have higher VEGF levels than diabetic patients without... DisGeNET Detail
A significantly higher frequency of the CC genotype of the -634 C/G VEGF polymorphism was found in t... DisGeNET Detail
VEGF -634C/G genotype is predictive of long-term survival after treatment with a definitive 5-fluoro... DisGeNET Detail
Association between the -634C/G polymorphisms of the vascular endothelial growth factor and retinopa... DisGeNET Detail
Association between the -634C/G polymorphisms of the vascular endothelial growth factor and retinopa... DisGeNET Detail
Two polymorphisms (rs699947, rs2010963) in the VEGFA gene and diabetic retinopathy: an updated meta-... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... 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
rs2010963 dbSNP
Genome
hg38
Position
chr6:43,770,613-43,770,613
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs2010963
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5619
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9417
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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