SNAP25, synaptosome associated protein 25, 6616

N. diseases: 283; 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: rs1555794286
rs1555794286 		1.000 20 10293197 missense variant T/A snv
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		0.800 1.000 1 2014 2014
dbSNP: rs797044873
rs797044873 		0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 0
dbSNP: rs797044873
rs797044873 		0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs797044873
rs797044873 		0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs797044873
rs797044873 		0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs3746544
rs3746544 		0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.040 1.000 4 2007 2018
dbSNP: rs1051312
rs1051312 		0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.030 0.667 3 2007 2013
dbSNP: rs3746544
rs3746544 		0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2009 2020
dbSNP: rs3787283
rs3787283 		0.882 0.040 20 10303770 intron variant A/G snv 0.34
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2009 2020
dbSNP: rs363050
rs363050 		0.790 0.240 20 10253609 intron variant G/A snv 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2019
dbSNP: rs363050
rs363050 		0.790 0.240 20 10253609 intron variant G/A snv 0.57
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.020 1.000 2 2019 2019
dbSNP: rs8636
rs8636 		1.000 0.040 20 10307094 3 prime UTR variant T/A;C snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2012 2017
dbSNP: rs1051312
rs1051312 		0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1051312
rs1051312 		0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1051312
rs1051312 		0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1051312
rs1051312 		0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs362549
rs362549 		1.000 0.040 20 10289242 intron variant A/G snv 0.56
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs362569
rs362569 		1.000 0.040 20 10266085 intron variant T/C snv 0.38
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs362584
rs362584 		1.000 0.040 20 10273827 intron variant G/A snv 0.24
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs362990
rs362990 		1.000 0.040 20 10295573 intron variant A/T snv 0.23
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs362998
rs362998 		1.000 0.040 20 10296973 synonymous variant C/T snv 0.11 0.11
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs363043
rs363043 		0.925 0.080 20 10245498 intron variant C/T snv 0.30
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs363043
rs363043 		0.925 0.080 20 10245498 intron variant C/T snv 0.30
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs363043
rs363043 		0.925 0.080 20 10245498 intron variant C/T snv 0.30
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs363050
rs363050 		0.790 0.240 20 10253609 intron variant G/A snv 0.57
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2019 2019