chr13:28305702:G>A Detail (hg38) (FLT1)

Information

Genome

Assembly Position
hg19 chr13:28,879,839-28,879,839 View the variant detail on this assembly version.
hg38 chr13:28,305,702-28,305,702

HGVS

Type Transcript Protein
RefSeq NM_002019.4:c.3815+976C>T
Ensemble ENST00000282397.9:c.3815+976C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.837
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
Type Database ID Link
Gene MIM 165070 OMIM
HGNC 3763 HGNC
Ensembl ENSG00000102755 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48114462 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 colorectal cancer The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 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
0.003 colorectal carcinoma The VEGFA rs833061 SNP is associated with the ORR, and the FLT1 rs9513070 SNP an... BeFree 25139485 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9513070 dbSNP
Genome
hg38
Position
chr13:28,305,702-28,305,702
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs9513070
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8375
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14037
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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