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: rs1060499769
rs1060499769 		6 152354858 missense variant C/T snv 1.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs150304757
rs150304757 		6 152244534 splice region variant C/T snv 3.9E-03 8.8E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs2295193
rs2295193 		1.000 0.040 6 152131959 intron variant G/A;C snv
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.030 0.667 3 2010 2014
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C4024899
Disease: Atrophy/Degeneration affecting the central nervous system
Atrophy/Degeneration affecting the central nervous system 		0.700 0
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.820 1.000 6 2011 2019
dbSNP: rs1203233
rs1203233 		1.000 0.040 6 152393471 intron variant G/T snv 0.39
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs17082664
rs17082664 		0.925 0.040 6 152417619 intron variant A/G snv 0.17
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs4523096
rs4523096 		1.000 0.040 6 152472277 intron variant C/A snv 0.76 0.79
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs111550108
rs111550108 		6 152140568 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7740449
rs7740449 		6 152253365 intron variant T/C snv 0.65
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1459132456
rs1459132456 		0.925 0.080 6 152125331 missense variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs761843408
rs761843408 		0.925 0.080 6 152125285 synonymous variant A/G snv 3.4E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs140492158
rs140492158 		1.000 0.080 6 152334134 missense variant C/A;T snv 8.0E-06; 7.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs143049227
rs143049227 		1.000 0.080 6 152140005 missense variant C/A;T snv 2.2E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs567753957
rs567753957 		1.000 0.080 6 152353660 missense variant C/A;T snv 8.0E-06; 6.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs746438011
rs746438011 		0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0