chr4:55114289:C>T Detail (hg38) (KDR)

Information

Genome

Assembly Position
hg19 chr4:55,980,456-55,980,456 View the variant detail on this assembly version.
hg38 chr4:55,114,289-55,114,289

HGVS

Type Transcript Protein
RefSeq NM_002253.2:c.659-24G>A
Ensemble ENST00000263923.5:c.659-24G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.145
ToMMo:0.130
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.173

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 tgv17048269 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
0.083 Hypertensive disease Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with... BeFree 24558090 Detail
0.003 Hypertensive disease Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with... BeFree 24558090 Detail
Annotation

Annotations

DescrptionSourceLinks
Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with hypertension (allel... DisGeNET Detail
Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with hypertension (allel... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr4:55,114,289-55,114,289
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
74.23
Standard deviation of sample read depth (HGVD)
38.91
Number of reference allele (HGVD)
1431
Number of alternative allele (HGVD)
243
Allele Frequency (HGVD)
0.14516129032258066
Gene Symbol (HGVD)
KDR
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))
rs2305949
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.13
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2178
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8574
East Asian Allele Counts (ExAC)
1484
East Asian Heterozygous Counts (ExAC)
1202
East Asian Homozygous Counts (ExAC)
141
East Asian Allele Frequency (ExAC)
0.17308140891066012
Chromosome Counts in All Race (ExAC)
120644
Allele Counts in All Race (ExAC)
21496
Heterozygous Counts in All Race (ExAC)
17219
Homozygous Counts in All Race (ExAC)
2138
Allele Frequency in All Race (ExAC)
0.17817711614336396
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