RELN, reelin, 5649

N. diseases: 178; N. variants: 52
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: rs797045912
rs797045912 		1.000 0.080 7 103917082 frameshift variant -/A delins 1.6E-05
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780436
rs587780436 		1.000 0.080 7 103565279 frameshift variant -/GGAGAGTGGAAGGT delins
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs607755
rs607755 		1.000 0.080 7 103749507 splice region variant A/G snv 0.49 0.50
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2015
dbSNP: rs10233848
rs10233848 		7 103482198 non coding transcript exon variant A/G snv 0.42
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2299356
rs2299356 		1.000 0.080 7 103669375 intron variant A/G snv 0.53
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs362746
rs362746 		0.925 0.120 7 103539148 synonymous variant A/G snv 3.8E-02 2.1E-02
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs362746
rs362746 		0.925 0.120 7 103539148 synonymous variant A/G snv 3.8E-02 2.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs6956101
rs6956101 		7 103508155 intron variant A/G snv 0.17
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6965019
rs6965019 		0.925 0.040 7 103758220 intron variant A/G snv 2.2E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6965019
rs6965019 		0.925 0.040 7 103758220 intron variant A/G snv 2.2E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs736707
rs736707 		0.851 0.040 7 103489956 intron variant A/G snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs262355
rs262355 		1.000 0.040 7 103785668 intron variant A/T snv 0.67
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1554404338
rs1554404338 		1.000 7 103701000 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2000 2015
dbSNP: rs362719
rs362719 		0.925 0.040 7 103545430 intron variant C/A snv 0.32
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2010 2011
dbSNP: rs12375196
rs12375196 		7 103776094 intron variant C/A snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs362719
rs362719 		0.925 0.040 7 103545430 intron variant C/A snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs3914132
rs3914132 		1.000 0.040 7 103886922 intron variant C/A;T snv
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs794727997
rs794727997 		1.000 7 103503158 missense variant C/A;T snv 4.0E-06
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs73714410
rs73714410 		1.000 0.040 7 103489775 missense variant C/G;T snv 6.0E-05; 3.1E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs11496125
rs11496125 		7 103777110 intron variant C/T snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019