| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | GeneticVariation | CLINVAR | Chronic osteomyelitis in patients with sickle cell disease. | 10944834 | 2000 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Genotype-phenotype correlation in Brazillian Rett syndrome patients. | 19722030 | 2009 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Prenatal diagnosis in Rett syndrome. | 12065946 | 2003 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | 17089071 | 2007 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Homozygosity for MECP2 gene in a girl with classical Rett syndrome. | 17881312 | 2008 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. | 20031356 | 2010 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 28940898 | 2017 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 28213671 | 2017 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 28940898 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR |