| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). | 23810759 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. | 22497713 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | 20479760 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. | 17084570 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Functional consequences of Rett syndrome mutations on human MeCP2. | 11058114 | 2000 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. | 10577905 | 1999 |
|||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |