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: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		Nervous System Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.700 0
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: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0234860
Disease: Weak cry
Weak cry 		0.700 0
dbSNP: rs886039469
rs886039469 		0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		0.700 0
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