chr1:186673926:A>G Detail (hg38) (PTGS2)

Information

Genome

Assembly Position
hg19 chr1:186,643,058-186,643,058 View the variant detail on this assembly version.
hg38 chr1:186,673,926-186,673,926

HGVS

Type Transcript Protein
RefSeq NM_000963.3:c.*427T>C
Ensemble ENST00000367468.10:c.*427T>C
ENST00000680451.1:c.*427T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.224
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance other
Review star
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 tgv4103044 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2022-12-10 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Drug usage The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.013 colorectal cancer The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.006 colorectal carcinoma The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.002 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
0.003 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.002 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.003 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.001 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.002 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.001 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.004 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.009 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.002 Ischemic stroke Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day isc... BeFree 20472470 Detail
0.001 esophagitis For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase i... BeFree 20811626 Detail
0.228 liver carcinoma Associations between Cox-2 rs20417 and rs5275 polymorphisms and the risk of hepa... BeFree 25400773 Detail
0.130 Cerebrovascular accident This is the first study to demonstrate associations between stroke functional ou... BeFree 20472470 Detail
0.075 Malignant neoplasm of breast Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... BeFree 25214704 Detail
0.044 breast carcinoma Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... BeFree 25214704 Detail
0.002 Ischemic Cerebrovascular Accident Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day isc... BeFree 20472470 Detail
0.051 colorectal carcinoma An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk ... BeFree 23531863 Detail
0.094 colorectal cancer An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk ... BeFree 23531863 Detail
0.031 stomach carcinoma Our findings indicate that PTGS2 rs5275T/C may be a candidate genetic marker for... BeFree 22385256 Detail
0.010 Malignant neoplasm of ovary In a pooled analysis of two population-based studies, the Hawaii Ovarian Cancer ... BeFree 20559705 Detail
0.004 endometrial carcinoma The aim of the current study was to test the hypothesis that rs5275 polymorphism... BeFree 25900875 Detail
0.002 Malignant neoplasm of endometrium The aim of the current study was to test the hypothesis that rs5275 polymorphism... BeFree 25900875 Detail
0.010 ovarian carcinoma Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use wi... BeFree 20559705 Detail
0.008 Epithelial ovarian cancer Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use wi... BeFree 20559705 Detail
0.020 ovarian neoplasm [Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use w... GAD 20559705 Detail
0.120 pancreatitis Except for rs5275, the frequencies of COX-2 polymorphisms were both similar in p... BeFree 19820421 Detail
0.037 Malignant neoplasm of stomach Our findings indicate that PTGS2 rs5275T/C may be a candidate genetic marker for... BeFree 22385256 Detail
<0.001 acute pancreatitis These findings suggest that the rs5275 polymorphism in the 3'-untranslated regio... BeFree 19820421 Detail
0.002 uterine corpus cancer The aim of the current study was to test the hypothesis that rs5275 polymorphism... BeFree 25900875 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000963.4(PTGS2):c.*427T>C AND Cholangiocarcinoma ClinVar Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functio... DisGeNET Detail
For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including th... DisGeNET Detail
Associations between Cox-2 rs20417 and rs5275 polymorphisms and the risk of hepatocellular carcinoma... DisGeNET Detail
This is the first study to demonstrate associations between stroke functional outcome and 2 COX-2 va... DisGeNET Detail
Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... DisGeNET Detail
Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... DisGeNET Detail
Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functio... DisGeNET Detail
An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inh... DisGeNET Detail
An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inh... DisGeNET Detail
Our findings indicate that PTGS2 rs5275T/C may be a candidate genetic marker for gastric cancer susc... DisGeNET Detail
In a pooled analysis of two population-based studies, the Hawaii Ovarian Cancer Case-Control Study a... DisGeNET Detail
The aim of the current study was to test the hypothesis that rs5275 polymorphism of PTGS2 influence ... DisGeNET Detail
The aim of the current study was to test the hypothesis that rs5275 polymorphism of PTGS2 influence ... DisGeNET Detail
Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use with invasive ovarian ... DisGeNET Detail
Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use with invasive ovarian ... DisGeNET Detail
[Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use with invasive ovarian... DisGeNET Detail
Except for rs5275, the frequencies of COX-2 polymorphisms were both similar in patients with mild or... DisGeNET Detail
Our findings indicate that PTGS2 rs5275T/C may be a candidate genetic marker for gastric cancer susc... DisGeNET Detail
These findings suggest that the rs5275 polymorphism in the 3'-untranslated region of the COX-2 gene ... DisGeNET Detail
The aim of the current study was to test the hypothesis that rs5275 polymorphism of PTGS2 influence ... 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
-
Genome
hg38
Position
chr1:186,673,926-186,673,926
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs5275
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.224
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3754
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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