chr6:43772941:T>C Detail (hg38) (VEGFA)

Information

Genome

Assembly Position
hg19 chr6:43,740,678-43,740,678 View the variant detail on this assembly version.
hg38 chr6:43,772,941-43,772,941

HGVS

Type Transcript Protein
RefSeq NM_001287044.1:c.-19+840T>C
NM_001171622.1:c.607-1400T>C
NM_001171630.1:c.607-1400T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.690
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 tgv25179526 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
0.005 macular degeneration Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... BeFree 24080590 Detail
0.185 age related macular degeneration Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... BeFree 24080590 Detail
0.011 macular degeneration Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... BeFree 24080590 Detail
0.480 age related macular degeneration Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... BeFree 24080590 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... DisGeNET Detail
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... DisGeNET Detail
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... DisGeNET Detail
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1413711 dbSNP
Genome
hg38
Position
chr6:43,772,941-43,772,941
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1413711
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6904
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11570
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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