chr6:12289406:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:12,289,639-12,289,639 View the variant detail on this assembly version.
hg38 chr6:12,289,406-12,289,406

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.204
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
0.040 Acute coronary syndrome Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs... BeFree 24035903 Detail
0.003 Acute coronary syndrome The -974C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is as... BeFree 24035903 Detail
Annotation

Annotations

DescrptionSourceLinks
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and ED... DisGeNET Detail
The -974C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk o... DisGeNET Detail
Gene
-
dbSNP
rs3087459 dbSNP
Genome
hg38
Position
chr6:12,289,406-12,289,406
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))
rs3087459
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2041
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3421
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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