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: rs2965087
rs2965087 		7 103471538 intron variant T/C snv 0.45
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
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: rs115035120
rs115035120 		1.000 0.040 7 103483741 missense variant C/T snv 8.5E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs751409835
rs751409835 		1.000 0.040 7 103486204 stop gained G/A;C snv 1.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
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: 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: rs761198705
rs761198705 		1.000 0.040 7 103490698 missense variant G/C snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs794727999
rs794727999 		1.000 7 103490747 missense variant C/T snv
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs200124755
rs200124755 		1.000 0.040 7 103498074 splice region variant T/G snv 5.2E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
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: 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: rs3808039
rs3808039 		1.000 0.120 7 103510989 synonymous variant T/C snv 4.7E-02 4.6E-02
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs587780437
rs587780437 		1.000 0.080 7 103523390 splice donor variant C/T snv
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: 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: rs1275980031
rs1275980031 		1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1275980031
rs1275980031 		1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
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: 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: rs2041475
rs2041475 		7 103547614 intron variant C/T snv 0.85
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018