DisGeNET - a database of gene-disease associations

SVEP1, sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1, 79987

N. diseases: 21; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1327533

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0023980
Disease:

Longevity

0.800

GeneticVariation

GWASDB

Joint influence of small-effect genetic variants on human longevity.

20834067

2010

dbSNP:

rs1327533

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0023980
Disease:

Longevity

0.800

GeneticVariation

GWASCAT

Joint influence of small-effect genetic variants on human longevity.

20834067

2010

dbSNP:

rs10817007

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10980457

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs76038906

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs7847526

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs111245230

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs147772407

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C2985280
Disease:

Blood Protein Measurement

TTCAGTGAATCCTAG

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs16914997

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs61751937

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs76665138

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs78742138

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs111245230

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Association analyses based on false discovery rate implicate new loci for coronary artery disease.

28714975

2017

dbSNP:

rs28663144

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs28663144

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs111245230

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

27618448

2016

dbSNP:

rs111245230

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

27618448

2016

dbSNP:

rs61751937

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C3828530
Disease:

Platelet Component Distribution Width Measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs10980451

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0010068
Disease:

Coronary heart disease

0.700

GeneticVariation

GWASDB

A genome-wide association study of a coronary artery disease risk variant.

23364394

2013

dbSNP:

rs1889321

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

Genome-wide association study of lung function decline in adults with and without asthma.

22424883

2012

dbSNP:

rs7042161

Entrez Id:	79987
Gene Symbol:	SVEP1

SVEP1

CUI:	C0005586
Disease:

Bipolar Disorder

0.010

GeneticVariation

BEFREE

The top association findings suggested that the BD risk alleles at SNP rs4765913 in CACNA1C gene and rs7042161 in SVEP1 may be associated with increased risk of 'cardiac dysrhythmias' (odds ratio (OR)=1.1, P=3.4 × 10(-3)) and 'essential hypertension' (OR=1.1, P=3.5 × 10(-3)), respectively.

27529678

2016