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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

PTGS2

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

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PTGS2

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
	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

Descrption	Source	Links
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: T

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