Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853333
rs137853333
KCNMA1
0.925 0.080 10 77090433 missense variant T/C snv 7.0E-06
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.800 1.000 0 2005 2015
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.800 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
0.925 0.160 10 76944829 missense variant T/C snv
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.700 0
dbSNP: rs762705295
rs762705295
KCNMA1
1.000 10 77012033 frameshift variant A/-;AA delins
CUI: C4539985
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 		0.700 0
dbSNP: rs863224885
rs863224885
KCNMA1
1.000 0.080 10 77110250 missense variant T/C snv
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
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
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0234860
Disease: Weak cry
Weak cry 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
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
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
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
KCNMA1 ; KCNMA1-AS1
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
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0