Gene: MECP2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584

2019
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. 29428602

2018
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes. 28497075

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach. 28394263

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28934905
rs28934905
MECP2
0.810 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748390
rs61748390
MECP2
0.810 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748404
rs61748404
MECP2
0.810 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28935168
rs28935168
MECP2
0.800 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61749715
rs61749715
MECP2
0.800 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61749723
rs61749723
MECP2
0.800 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61751443
rs61751443
MECP2
0.800 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61751449
rs61751449
MECP2
0.800 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748383
rs61748383
MECP2
0.710 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748411
rs61748411
MECP2
0.710 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61752361
rs61752361
MECP2
0.710 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748391
rs61748391
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748406
rs61748406
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017