rs61751362, MECP2

N. diseases: 7
Disease: Scoliosis, unspecified ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.020 GeneticVariation BEFREE Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. 20032810 2010
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.020 GeneticVariation BEFREE When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis. 16970893 2006