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: 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: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 2 2013 2013
dbSNP: rs17082664
rs17082664 		0.925 0.040 6 152417619 intron variant A/G snv 0.17
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 1 2011 2011
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: rs119103246
rs119103246 		1.000 0.120 6 152151987 missense variant C/T snv 4.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs119103248
rs119103248 		1.000 0.120 6 152140027 missense variant C/T snv 6.7E-04 8.2E-04
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs58415480
rs58415480 		1.000 6 152241136 intron variant C/G;T snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 3 2018 2019
dbSNP: rs58415480
rs58415480 		1.000 6 152241136 intron variant C/G;T snv
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 3 2018 2019
dbSNP: rs797045109
rs797045109 		1.000 0.080 6 152442152 frameshift variant -/CC ins
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2007 2013
dbSNP: rs886042380
rs886042380 		0.925 0.120 6 152334218 frameshift variant T/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2007 2013
dbSNP: rs886042380
rs886042380 		0.925 0.120 6 152334218 frameshift variant T/- delins
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2013
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: 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: rs1563130387
rs1563130387 		1.000 0.080 6 152331386 frameshift variant G/- del
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1564367104
rs1564367104 		0.925 0.120 6 152483215 frameshift variant GA/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1564367104
rs1564367104 		0.925 0.120 6 152483215 frameshift variant GA/- delins
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs169974
rs169974 		1.000 0.040 6 152454097 intron variant T/C snv 0.52
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs17082463
rs17082463 		6 152320256 intron variant A/G snv 4.5E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
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: rs17803970
rs17803970 		1.000 0.040 6 152232583 intron variant A/T snv 7.1E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs214969
rs214969 		1.000 0.040 6 152455196 intron variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs214976
rs214976 		1.000 0.040 6 152451129 missense variant A/G snv 0.47 0.52
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs214993
rs214993 		1.000 0.040 6 152445051 intron variant G/A;C;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs35569312
rs35569312 		1.000 6 152343404 intron variant C/T snv 0.11
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs35569312
rs35569312 		1.000 6 152343404 intron variant C/T snv 0.11
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018