KCNMA1-AS1, KCNMA1 antisense RNA 1, 101929328

N. diseases: 40; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2116830
rs2116830
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0028754
Disease:
Obesity
G 0.800 GeneticVariation GWASDB Genome wide association study identifies KCNMA1 contributing to human obesity. 21708048 2011
dbSNP: rs2116830
rs2116830
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0028754
Disease:
Obesity
G 0.800 GeneticVariation GWASCAT Genome wide association study identifies KCNMA1 contributing to human obesity. 21708048 2011
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1836173
Disease:
Generalized Epilepsy and Paroxysmal Dyskinesia
C 0.800 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1836173
Disease:
Generalized Epilepsy and Paroxysmal Dyskinesia
0.800 GeneticVariation UNIPROT
dbSNP: rs10762738
rs10762738
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0848558
Disease:
Hypospadias
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
dbSNP: rs1565091862
rs1565091862
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1565091862
rs1565091862
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1836173
Disease:
Generalized Epilepsy and Paroxysmal Dyskinesia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1565091862
rs1565091862
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0026106
Disease:
Mild Mental Retardation
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1565091862
rs1565091862
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0856863
Disease:
Broad-based gait
C 0.700 GeneticVariation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1836542
Disease:
Depressed nasal bridge
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0426209
Disease:
amniotic fluid meconium stained
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1836308
Disease:
Generalized joint laxity
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1849357
Disease:
Abnormality of the aryepiglottic fold
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C4025690
Disease:
Prenatal maternal abnormality
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1851303
Disease:
Abnormality of the renal collecting system
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C4023681
Disease:
Delayed fine motor development
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0151611
Disease:
Electroencephalogram abnormal
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0162834
Disease:
Hyperpigmentation
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0431406
Disease:
Asymmetric crying face association
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0020615
Disease:
Hypoglycemia
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0019322
Disease:
Umbilical hernia
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C4476705
Disease:
Upgaze palsy
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C1858719
Disease:
Facial muscle weakness of muscles innervated by CN VII
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0338656
Disease:
Impaired cognition
C 0.700 CausalMutation CLINVAR
dbSNP: rs886039469
rs886039469
Entrez Id: 3778;101929328
Gene Symbol: KCNMA1;KCNMA1-AS1
KCNMA1;KCNMA1-AS1
CUI: C0151908
Disease:
Dry skin
C 0.700 CausalMutation CLINVAR