SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs190948096
rs190948096
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1918202
rs1918202
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs6539344
rs6539344
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		G 0.700 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1565922388
rs1565922388
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		A 0.700 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1565922395
rs1565922395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		G 0.700 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		A 0.700 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1732664
rs1732664
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs6539284
rs6539284
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs6539284
rs6539284
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs7963801
rs7963801
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs7963801
rs7963801
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs7963801
rs7963801
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs17005500
rs17005500
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. 27476655 2016
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. 27476655 2016
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution. 26030874 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release. 25775572 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release. 25775572 2015