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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-12-10 | no assertion criteria provided | cholangiocarcinoma |
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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
Descrption | Source | Links |
---|---|---|
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 >... | 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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