Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10853087
rs10853087
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0005845
Disease:
Blood urea nitrogen measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs11658276
rs11658276
Entrez Id: 474170
Gene Symbol: LRRC37A2
LRRC37A2
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs141554661
rs141554661
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0036572
Disease:
Seizures
A 0.700 GeneticVariation CLINVAR
dbSNP: rs141554661
rs141554661
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive
A 0.700 GeneticVariation CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
dbSNP: rs141554661
rs141554661
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
A 0.700 CausalMutation CLINVAR
dbSNP: rs141899337
rs141899337
Entrez Id: 7484;474170
Gene Symbol: WNT9B;LRRC37A2
WNT9B;LRRC37A2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs142167
rs142167
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs144216645
rs144216645
Entrez Id: 51326;474170;100506084
Gene Symbol: ARL17A;LRRC37A2;ARL17B
ARL17A;LRRC37A2;ARL17B
CUI: C0023114
Disease:
Handedness
0.700 GeneticVariation GWASCAT The molecular genetics of hand preference revisited. 30980028 2019
dbSNP: rs1563304
rs1563304
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0004238
Disease:
Atrial Fibrillation
T 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs1568177307
rs1568177307
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive
G 0.700 GeneticVariation CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0206062
Disease:
Lung Diseases, Interstitial
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815 2012
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASDB Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 21738487 2011
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0919267
Disease:
ovarian neoplasm
G 0.700 GeneticVariation GWASDB Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013 2013
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs16941382
rs16941382
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population. 29137253 2017
dbSNP: rs16941382
rs16941382
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population. 29137253 2017
dbSNP: rs16941382
rs16941382
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population. 29137253 2017
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0018803
Disease:
Heart Function Tests
C 0.800 GeneticVariation GWASCAT Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. 21076409 2010
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0018803
Disease:
Heart Function Tests
C 0.800 GeneticVariation GWASDB Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. 21076409 2010
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0428886
Disease:
Mean blood pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C1956346
Disease:
Coronary Artery Disease
T 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: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0428886
Disease:
Mean blood pressure
C 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016