Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749721
rs61749721
MECP2
A 0.700 CausalMutation CLINVAR [Technic of the entire cochleogram for the study of the cochlea in guinea pigs]. 1241840

1975
dbSNP: rs61748408
rs61748408
MECP2
C 0.700 CausalMutation CLINVAR [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. 18021529

2007
dbSNP: rs267608387
rs267608387
MECP2
A 0.700 CausalMutation CLINVAR [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. 20376788

2010
dbSNP: rs267608387
rs267608387
MECP2
A 0.700 CausalMutation CLINVAR What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? 22182064

2012
dbSNP: rs61748390
rs61748390
MECP2
C 0.700 CausalMutation CLINVAR What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? 22182064

2012
dbSNP: rs61748408
rs61748408
MECP2
C 0.700 CausalMutation CLINVAR What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? 22182064

2012
dbSNP: rs61750256
rs61750256
MECP2
G 0.700 CausalMutation CLINVAR Variable phenotypic expression of a MECP2 mutation in a family. 20151026

2009
dbSNP: rs61752992
rs61752992
MECP2
G 0.700 CausalMutation CLINVAR Variable phenotypic expression of a MECP2 mutation in a family. 20151026

2009
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs1557135004
rs1557135004
MECP2
TA 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1557135091
rs1557135091
MECP2
C 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1557135793
rs1557135793
MECP2
CG 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1557135793
rs1557135793
MECP2
C 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1557136059
rs1557136059
MECP2
CT 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1569548376
rs1569548376
MECP2
T 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs61750256
rs61750256
MECP2
G 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs61752992
rs61752992
MECP2
G 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs61753972
rs61753972
MECP2
T 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs63749748
rs63749748
MECP2
T 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs1557135793
rs1557135793
MECP2
C 0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110

2011
dbSNP: rs1569548307
rs1569548307
MECP2
CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT 0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110

2011
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110

2011
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311

2016