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: 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: 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: 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: 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: 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: 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: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0393525
Disease:
Progressive cerebellar ataxia 		0.010 GeneticVariation BEFREE Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. 24458321 2014
dbSNP: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0027066
Disease:
Myoclonus 		0.010 GeneticVariation BEFREE Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. 24458321 2014
dbSNP: rs3785889
rs3785889
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007). 29137253 2017
dbSNP: rs3785889
rs3785889
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007). 29137253 2017
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: rs3785889
rs3785889
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007). 29137253 2017
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: 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: 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: rs197922
rs197922
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE GOSR2 Lys67Arg is associated with hypertension in whites. 19057520 2009
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: 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: 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: 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