Gene: KCNA2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 27062609

2017
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Reply. 28019717

2017