KCNMA1-AS1, KCNMA1 antisense RNA 1, 101929328

N. diseases: 40; N. variants: 5
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: rs2116830
rs2116830 		1.000 0.080 10 76886778 3 prime UTR variant G/T snv 0.14
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 0
dbSNP: rs10762738
rs10762738 		1.000 0.120 10 76935709 intron variant A/G snv 0.38
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1565091862
rs1565091862 		0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1565091862
rs1565091862 		0.925 0.160 10 76944829 missense variant T/C snv
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1565091862
rs1565091862 		0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1565091862
rs1565091862 		0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0007384
Disease: Cataplexy
Cataplexy 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0