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: rs7341475
rs7341475 		0.851 0.240 7 103764368 intron variant G/A snv 0.17
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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 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: rs528528
rs528528 		0.925 0.080 7 103748638 intron variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2016
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: 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: rs7341475
rs7341475 		0.851 0.240 7 103764368 intron variant G/A snv 0.17
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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity 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: rs362691
rs362691 		0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs7341475
rs7341475 		0.851 0.240 7 103764368 intron variant G/A snv 0.17
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum 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: rs362691
rs362691 		0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
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: 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: 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
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: rs2299383
rs2299383 		1.000 0.080 7 103778399 intron variant C/T snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: rs2299383
rs2299383 		1.000 0.080 7 103778399 intron variant C/T snv 0.41
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2072403
rs2072403 		1.000 0.120 7 103651777 synonymous variant T/C snv 7.5E-02 9.5E-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: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
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: rs1554404013
rs1554404013 		1.000 7 103697970 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2000 2015