Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557134999
rs1557134999
MECP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557135315
rs1557135315
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557136332
rs1557136332
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557150846
rs1557150846
MECP2
TCTCCTCCTCGCCTCCTC 0.700 CausalMutation CLINVAR

dbSNP: rs1569548314
rs1569548314
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs179363900
rs179363900
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608428
rs267608428
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608466
rs267608466
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608488
rs267608488
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749723
rs61749723
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749751
rs61749751
MECP2
CG 0.700 CausalMutation CLINVAR

dbSNP: rs61753971
rs61753971
MECP2
0.700 GeneticVariation UNIPROT

dbSNP: rs62931162
rs62931162
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs786205048
rs786205048
MECP2
T 0.700 CausalMutation CLINVAR

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: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs61749721
rs61749721
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs267608469
rs267608469
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905

1999
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905

1999
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905

1999
dbSNP: rs1569548307
rs1569548307
MECP2
CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT 0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs61748390
rs61748390
MECP2
C 0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000