chr6:43723335:A>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:43,723,335-43,723,335
hg38 chr6:43,755,598-43,755,598 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.620
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 breast carcinoma Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known ... BeFree 22315135 Detail
0.002 Malignant neoplasm of breast Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known ... BeFree 22315135 Detail
Annotation

Annotations

DescrptionSourceLinks
Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109... DisGeNET Detail
Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109... DisGeNET Detail
Gene
-
dbSNP
rs833052 dbSNP
Genome
hg19
Position
chr6:43,723,335-43,723,335
Variant Type
snv
Reference Allele
A
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))
rs833052
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6196
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10384
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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