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
0.800 GeneticVariation UNIPROT
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: 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: 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: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.030 GeneticVariation BEFREE Additionally, in candidate gene studies the specific variant rs2251214 has been associated with attention-deficit/hyperactivity disorder (ADHD), antisocial personality disorder and other externalizing phenotypes in adults with ADHD, as well as with response to methylphenidate (MPH) treatment. 31059723 2019
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.030 GeneticVariation BEFREE Our findings suggest that SYT1-rs2251214 presents a broad influence in IR-MPH response variability in adults with ADHD, being involved with both symptom response and treatment persistence. 28461697 2018
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.030 GeneticVariation BEFREE We replicated a previously reported association between SYT1-rs2251214 and ADHD in adulthood. 28130000 2017
dbSNP: rs1880867
rs1880867
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE This study evaluates, for we believe the first time, polymorphisms on the SNARE complex-related genes STX1A (rs2228607), VAMP2 (26bp Ins/Del) and SYT1 (rs1880867 and rs2251214) on the response to immediate-release methylphenidate (IR-MPH) in a naturalistic sample of adults with ADHD. 28461697 2018
dbSNP: rs1880867
rs1880867
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE We tested the association between ADHD and polymorphisms on the SNARE genes STX1A (rs2228607), SYT1 (rs1880867 and rs2251214), VAMP2 (26bp Ins/Del) and SNAP25 (rs6108461 and rs8636) on a sample comprised of 548 adults with ADHD and 644 non-affected controls. 28130000 2017
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C3496069
Disease:
cocaine use
0.020 GeneticVariation BEFREE Association between cognitive performance and SYT1-rs2251214 among women with cocaine use disorder. 31562556 2019
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C3496069
Disease:
cocaine use
0.020 GeneticVariation BEFREE The association between SYT1-rs2251214 and cocaine use disorder further supports its role in psychiatry. 31059723 2019
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0003431
Disease:
Antisocial Personality Disorder
0.010 GeneticVariation BEFREE Additionally, in candidate gene studies the specific variant rs2251214 has been associated with attention-deficit/hyperactivity disorder (ADHD), antisocial personality disorder and other externalizing phenotypes in adults with ADHD, as well as with response to methylphenidate (MPH) treatment. 31059723 2019
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0424101
Disease:
Inattention
0.010 GeneticVariation BEFREE SYT1-rs2251214 was associated with the categorical short-term response to IR-MPH (P=0.006, P<sub>FDR</sub>=0.028), and with the percentage of inattention and oppositional defiant disorder symptoms reduction (P=0.007, P<sub>FDR</sub>=0.028 and P=0.017, P<sub>FDR</sub>=0.048, respectively). 28461697 2018
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0029121
Disease:
Oppositional Defiant Disorder
0.010 GeneticVariation BEFREE SYT1-rs2251214 was associated with the categorical short-term response to IR-MPH (P=0.006, P<sub>FDR</sub>=0.028), and with the percentage of inattention and oppositional defiant disorder symptoms reduction (P=0.007, P<sub>FDR</sub>=0.028 and P=0.017, P<sub>FDR</sub>=0.048, respectively). 28461697 2018
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0085281
Disease:
Addictive Behavior
0.010 GeneticVariation BEFREE We tested the association between SYT1-rs2251214 and CUD susceptibility and severity (addiction severity index) in a sample composed by 315 patients addicted to smoked cocaine and 769 non-addicted volunteers. 31059723 2019
dbSNP: rs2251214
rs2251214
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0338656
Disease:
Impaired cognition
0.010 GeneticVariation BEFREE Results showed that G homozygous (n = 146) have lower cognitive performance in the Stroop, Trail Making and Matrix Reasoning tests compared with A-allele carriers (n = 64), suggesting that rs2251214 may influence the severity of cognitive impairments in CUD. 31562556 2019
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. 21307261 2011
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 GeneticVariation CLINVAR Neurotransmitter release: the last millisecond in the life of a synaptic vesicle. 24183019 2013
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans. 7477324 1995
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse. 7954835 1994
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 GeneticVariation CLINVAR Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release. 23283333 2013
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 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. 12110842 2002