Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
0.710 GeneticVariation BEFREE QTc prolongation was associated with p.(Thr158Met) mutation versus the remaining six common mutations (hazard ratio 4.1, 95% confidence interval 1.4-12.0; p=0.01) but not with age, RSSS score, seizures, breathing abnormalities, or SSRIs. 31797351

2019
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000