chr20:48140682:C>G Detail (hg19) (PTGIS)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr20:48,140,682-48,140,682
hg38	chr20:49,524,145-49,524,145 View the variant detail on this assembly version.

HGVS

PTGIS

Type	Transcript	Protein
RefSeq	NM_000961.3:c.768G>C	NP_000952.1:p.Leu256=
Ensemble	ENST00000244043.5:c.768G>C	ENST00000244043.5:p.Leu256=

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

PTGIS

Type	Database	ID	Link
Gene	MIM	601699	OMIM
	HGNC	9603	HGNC
	Ensembl	ENSG00000124212	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
0.003	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

Annotation

Annotations

Descrption	Source	Links
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

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: rs5628 dbSNP
Genome: hg19
Position: chr20:48,140,682-48,140,682
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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