GOSR2, golgi SNAP receptor complex member 2, 9570

N. diseases: 55; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.800 GeneticVariation UNIPROT A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
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: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		T 0.800 CausalMutation CLINVAR
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: 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: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs197920
rs197920
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7213526
rs7213526
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
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: 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: rs76774446
rs76774446
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs1838105
rs1838105
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0008924
Disease:
Cleft upper lip 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs1838105
rs1838105
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0008925
Disease:
Cleft Palate 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs3785888
rs3785888
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0008925
Disease:
Cleft Palate 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs3785888
rs3785888
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs6504622
rs6504622
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C4021813
Disease:
Oral cleft 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
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
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
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: 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