chr6:43762018:G>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:43,729,755-43,729,755 View the variant detail on this assembly version.
hg38 chr6:43,762,018-43,762,018

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.174
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
rs1109324 dbSNP
Genome
hg38
Position
chr6:43,762,018-43,762,018
Variant Type
snv
Reference Allele
G
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))
rs1109324
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1744
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2923
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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