chr4:55950198:A>T Detail (hg19) (KDR)

Information

Genome

Assembly Position
hg19 chr4:55,950,198-55,950,198
hg38 chr4:55,084,031-55,084,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002253.2:c.3663-1396T>A
Ensemble ENST00000263923.5:c.3663-1396T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.097
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 191306 OMIM
HGNC 6307 HGNC
Ensembl ENSG00000128052 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17046836 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
0.021 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
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

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12498529 dbSNP
Genome
hg19
Position
chr4:55,950,198-55,950,198
Variant Type
snv
Reference Allele
A
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))
rs12498529
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0967
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1620
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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