chr6:43777358:C>A Detail (hg38) (VEGFA)

Information

Genome

Assembly Position
hg19 chr6:43,745,095-43,745,095 View the variant detail on this assembly version.
hg38 chr6:43,777,358-43,777,358

HGVS

Type Transcript Protein
RefSeq NM_001287044.1:c.35-111C>A
NM_001171622.1:c.659-111C>A
NM_001171630.1:c.659-111C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.294
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 tgv25179644 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 asthma Conversely, the AA genotype in rs2146323 was associated with uncontrolled asthma... BeFree 22519966 Detail
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
Annotation

Annotations

DescrptionSourceLinks
Conversely, the AA genotype in rs2146323 was associated with uncontrolled asthma in patients regular... DisGeNET Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2146323 dbSNP
Genome
hg38
Position
chr6:43,777,358-43,777,358
Variant Type
snv
Reference Allele
C
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))
rs2146323
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2936
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4921
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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