Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000