SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.800 1.000 2 2015 2018
dbSNP: rs1555226395
rs1555226395 		1.000 12 79448945 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1994 2016
dbSNP: rs1555226395
rs1555226395 		1.000 12 79448945 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1994 2016
dbSNP: rs1565922388
rs1565922388 		0.925 12 79353599 missense variant T/A snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.700 1.000 2 2015 2018
dbSNP: rs144900171
rs144900171 		0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1565922395
rs1565922395 		0.925 12 79353602 missense variant A/G snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1565962725
rs1565962725 		0.925 12 79448953 missense variant C/A snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs17005500
rs17005500 		1.000 0.080 12 79345104 intron variant T/C snv 0.12
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1732664
rs1732664 		12 79353707 intron variant T/C snv 0.76
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs190948096
rs190948096 		12 79379323 intron variant G/A snv 2.8E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1918202
rs1918202 		12 79190438 intron variant A/G snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6539284
rs6539284 		12 79198900 intron variant T/C snv 0.30
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6539284
rs6539284 		12 79198900 intron variant T/C snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs6539344
rs6539344 		12 79265260 intron variant G/T snv 0.70
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7963801
rs7963801 		12 79291446 intron variant T/C snv 0.70
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7963801
rs7963801 		12 79291446 intron variant T/C snv 0.70
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7963801
rs7963801 		12 79291446 intron variant T/C snv 0.70
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1135402761
rs1135402761 		0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0