Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel KCNB1 mutation associated with non-syndromic intellectual disability. 27928161

2017
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325

2015
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability. 15950285

2005
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro. 7751950

1995