chr6:43768652:A>C Detail (hg38) (VEGFA, POLR1C)

Information

Genome

Assembly Position
hg19 chr6:43,736,389-43,736,389 View the variant detail on this assembly version.
hg38 chr6:43,768,652-43,768,652

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 Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2009-12-01 no assertion criteria provided Atherosclerosis, susceptibility to 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 multiple myeloma In our retrospective study, we analyzed candidate single-nucleotide polymorphism... BeFree 21859556 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
0.135 Retinal Diseases However, our study indicated that DR patients have higher VEGF levels than diabe... BeFree 24534217 Detail
0.210 diabetic retinopathy Two polymorphisms (rs699947, rs2010963) in the VEGFA gene and diabetic retinopat... BeFree 24131746 Detail
<0.001 Mucocutaneous Lymph Node Syndrome An association with susceptibility to KD was observed with 2 of the 6 single-nuc... BeFree 16645995 Detail
0.120 Atherosclerosis, susceptibility to NA CLINVAR 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
Annotation

Annotations

DescrptionSourceLinks
NM_001025366.2(VEGFA):c.-2055A>C AND Atherosclerosis, susceptibility to 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
In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
However, our study indicated that DR patients have higher VEGF levels than diabetic patients without... DisGeNET Detail
Two polymorphisms (rs699947, rs2010963) in the VEGFA gene and diabetic retinopathy: an updated meta-... DisGeNET Detail
An association with susceptibility to KD was observed with 2 of the 6 single-nucleotide polymorphism... DisGeNET Detail
NA 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
Gene
-
dbSNP
rs699947 dbSNP
Genome
hg38
Position
chr6:43,768,652-43,768,652
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs699947
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6907
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11576
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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