Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749743
rs61749743
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		AC 0.700 CausalMutation CLINVAR Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. 23262346

2013
dbSNP: rs61749743
rs61749743
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		AC 0.700 CausalMutation CLINVAR MECP2 mutations in Serbian Rett syndrome patients. 17986102

2007
dbSNP: rs61749743
rs61749743
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		AC 0.700 CausalMutation CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237

2001
dbSNP: rs61749743
rs61749743
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		AC 0.700 CausalMutation CLINVAR [Limulus test (factor G) and polysaccharides from fungus]. 1402105

1992
dbSNP: rs61749743
rs61749743
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.700 CausalMutation CLINVAR