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 		T 0.800 CausalMutation CLINVAR
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: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863223401
rs863223401
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		C 0.700 CausalMutation CLINVAR
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: 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: 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: 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
dbSNP: rs3785889
rs3785889
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE Additionally, the frequency of the T-A-G haplotype (rs197932-rs3785889-rs197922) for men was significantly higher in the EH patients than in the control subjects (P=0.049). 23313660 2013
dbSNP: rs197922
rs197922
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE Additionally, the frequency of the T-A-G haplotype (rs197932-rs3785889-rs197922) for men was significantly higher in the EH patients than in the control subjects (P=0.049). 23313660 2013
dbSNP: rs3785889
rs3785889
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0027051
Disease:
Myocardial Infarction 		0.010 GeneticVariation BEFREE Additionally, the frequency of the T-G-G haplotype (rs197932-rs3785889-rs197922) for men was significantly lower in the MI patients than in the control subjects (p=0.040). 23675987 2013
dbSNP: rs197922
rs197922
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0027051
Disease:
Myocardial Infarction 		0.010 GeneticVariation BEFREE Additionally, the frequency of the T-G-G haplotype (rs197932-rs3785889-rs197922) for men was significantly lower in the MI patients than in the control subjects (p=0.040). 23675987 2013
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: 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: C1306620
Disease:
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
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: 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: 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: C0005823
Disease:
Blood Pressure 		T 0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
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