chr6:43752536:C>T Detail (hg19) (VEGFA, POLR1C)

Information

Genome

Assembly Position
hg19 chr6:43,752,536-43,752,536
hg38 chr6:43,784,799-43,784,799 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287044.1:c.*237C>T
NM_001025370.2:c.*237C>T
NM_001171628.1:c.*237C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.199
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance other
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 tgv25180101 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2022-12-10 no assertion criteria provided cholangiocarcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.083 duodenal ulcer The G1612A(rs10434) and C936T(rs3025039) polymorphisms in the 3' untranslated re... BeFree 19496079 Detail
0.029 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.006 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.004 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.026 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.065 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.105 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
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 Mucocutaneous Lymph Node Syndrome An association with susceptibility to KD was observed with 2 of the 6 single-nuc... BeFree 16645995 Detail
<0.001 Early-Stage Breast Carcinoma In this study, we investigated the influence of the functional polymorphisms VEG... BeFree 23625573 Detail
<0.001 hypothyroidism The presence of C-allele in rs833061 and the T-allele in rs3025039 polymorphism ... BeFree 22439647 Detail
0.185 age related macular degeneration In this Korean neovascular AMD cohort, treatment outcome after anti-VEGF was fou... BeFree 25558172 Detail
0.002 breast carcinoma Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known ... BeFree 22315135 Detail
0.002 Malignant neoplasm of breast Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known ... BeFree 22315135 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003376.6(VEGFA):c.*237C>T AND Cholangiocarcinoma ClinVar Detail
The G1612A(rs10434) and C936T(rs3025039) polymorphisms in the 3' untranslated region (3'-UTR) of VEG... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET 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
An association with susceptibility to KD was observed with 2 of the 6 single-nucleotide polymorphism... DisGeNET Detail
In this study, we investigated the influence of the functional polymorphisms VEGF-A rs3025039 C &gt;... DisGeNET Detail
The presence of C-allele in rs833061 and the T-allele in rs3025039 polymorphism of VEGFA were associ... DisGeNET Detail
In this Korean neovascular AMD cohort, treatment outcome after anti-VEGF was found to differ by the ... DisGeNET Detail
Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109... DisGeNET Detail
Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109... 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
chr6:43,752,536-43,752,536
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))
rs3025039
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.199
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3336
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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