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: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		Pathological Conditions, Signs and Symptoms 0.810 1.000 3 2012 2019
dbSNP: rs564343
rs564343 		0.925 0.080 11 66127695 intron variant A/G snv 0.46
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.810 1.000 2 2013 2017
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1998 2018
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1998 2018
dbSNP: rs10896090
rs10896090 		1.000 0.040 11 66177715 intron variant A/G snv 0.16
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs187649293
rs187649293 		11 66221570 non coding transcript exon variant C/T snv 1.3E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs489337
rs489337 		1.000 0.040 11 66087090 intron variant A/C;G snv
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs801738
rs801738 		11 66156746 intron variant C/G snv 0.28
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs801742
rs801742 		11 66147295 intron variant C/A snv 0.25
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		Neoplasms 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs398123009
rs398123009 		0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017