chr7:151009295:C>G Detail (hg38) (NOS3)

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

Genome

Assembly	Position
hg19	chr7:150,706,383-150,706,383 View the variant detail on this assembly version.
hg38	chr7:151,009,295-151,009,295

HGVS

NOS3

Type	Transcript	Protein
RefSeq	NM_000603.4:c.2324+28C>G
Ensemble	ENST00000297494.8:c.2324+28C>G
	ENST00000461406.5:c.1706+28C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

NOS3

Type	Database	ID	Link
Gene	MIM	163729	OMIM
	HGNC	7876	HGNC
	Ensembl	ENSG00000164867	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
0.014	Endothelial dysfunction	Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfu...	BeFree	18349107	Detail
0.002	coronary artery disease	We previously reported the genetic association between NOS3 rs753482-A>C poly...	BeFree	24302629	Detail

Annotation

Annotations

Descrption	Source	Links
Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfunction, forearm vaso...	DisGeNET	Detail
We previously reported the genetic association between NOS3 rs753482-A>C polymorphism on intron 1...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr7:151,009,295-151,009,295
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 7044
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 98768
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.0374210270532967E-5

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