chr1:186671926:G>A Detail (hg38) (PTGS2)

Information

Genome

Assembly Position
hg19 chr1:186,641,058-186,641,058 View the variant detail on this assembly version.
hg38 chr1:186,671,926-186,671,926

HGVS

Type Transcript Protein
RefSeq NM_000963.3:c.*2427C>T
Ensemble ENST00000367468.10:c.*2427C>T
ENST00000680451.1:c.*2427C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.025
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 600262 OMIM
HGNC 9605 HGNC
Ensembl ENSG00000073756 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4103008 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
<0.001 Cardiovascular Diseases We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... BeFree 16879213 Detail
0.001 esophagitis For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase i... BeFree 20811626 Detail
<0.001 myocardial infarction We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... BeFree 16879213 Detail
0.130 Cardiovascular Diseases We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... BeFree 16879213 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... DisGeNET Detail
For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including th... DisGeNET Detail
We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... DisGeNET Detail
We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs689470 dbSNP
Genome
hg38
Position
chr1:186,671,926-186,671,926
Variant Type
snv
Reference Allele
G
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))
rs689470
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0248
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
416
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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