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: rs267607209
rs267607209 		1.000 0.120 22 33304476 missense variant A/G snv 7.0E-06
CUI: C3150414
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2008 2014
dbSNP: rs267607210
rs267607210 		1.000 0.120 22 33384205 missense variant G/A;C snv 4.0E-06
CUI: C3150414
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2008 2014
dbSNP: rs121908675
rs121908675 		1.000 0.240 22 33304434 stop gained C/A;T snv 8.0E-06
CUI: C1837229
Disease: Muscular Dystrophy, Congenital, Type 1D
Muscular Dystrophy, Congenital, Type 1D 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2003 2010
dbSNP: rs117451620
rs117451620 		1.000 22 33873469 intron variant C/A snv 1.8E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs12485060
rs12485060 		22 33869808 intron variant T/A;C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13054775
rs13054775 		22 33877877 intron variant A/G snv 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs138584487
rs138584487 		22 33416876 intron variant G/A;C snv
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2017 2017
dbSNP: rs17809399
rs17809399 		1.000 0.120 22 33861145 intron variant G/A snv 0.21
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs5749682
rs5749682 		1.000 0.120 22 33852326 intron variant C/A snv 0.17
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs5754682
rs5754682 		1.000 0.040 22 33806297 intron variant C/T snv 0.90
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs5754753
rs5754753 		22 33900763 intron variant C/T snv 0.80
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9621705
rs9621705 		0.925 0.040 22 33471478 intron variant C/T snv 3.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9621705
rs9621705 		0.925 0.040 22 33471478 intron variant C/T snv 3.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1569112355
rs1569112355 		1.000 0.120 22 33382015 frameshift variant -/TT delins
CUI: C3150414
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs761071115
rs761071115 		1.000 0.120 22 33650492 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C3150414
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760543
rs760543 		0.925 0.080 22 33435602 intron variant C/T snv 0.38
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs760543
rs760543 		0.925 0.080 22 33435602 intron variant C/T snv 0.38
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2014 2014