chr6:43751359:C>T Detail (hg19) (VEGFA)

Information

Genome

Assembly Position
hg19 chr6:43,751,359-43,751,359
hg38 chr6:43,783,622-43,783,622 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287044.1:c.471-919C>T
NM_001171622.1:c.933-919C>T
NM_001171630.1:c.933-919C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.282
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 192240 OMIM
HGNC 12680 HGNC
Ensembl ENSG00000112715 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25180031 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
0.059 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.002 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.010 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.150 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.024 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
Annotation

Annotations

DescrptionSourceLinks
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3025035 dbSNP
Genome
hg19
Position
chr6:43,751,359-43,751,359
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))
rs3025035
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2819
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4724
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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