chr4:55112043:C>T Detail (hg38) (KDR)

Information

Genome

Assembly Position
hg19 chr4:55,978,210-55,978,210 View the variant detail on this assembly version.
hg38 chr4:55,112,043-55,112,043

HGVS

Type Transcript Protein
RefSeq NM_002253.2:c.976+1261G>A
Ensemble ENST00000263923.5:c.976+1261G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.334
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 tgv17048157 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 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
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
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
Annotation

Annotations

DescrptionSourceLinks
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... 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
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11941492 dbSNP
Genome
hg38
Position
chr4:55,112,043-55,112,043
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))
rs11941492
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3339
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5596
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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