Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751457
rs61751457
MECP2
0.010 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs61752361
rs61752361
MECP2
0.010 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs61753251
rs61753251
CDKL5
C 0.700 CausalMutation CLINVAR

dbSNP: rs62641235
rs62641235
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs62643608
rs62643608
CDKL5
C 0.700 CausalMutation CLINVAR

dbSNP: rs62643614
rs62643614
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs62653623
rs62653623
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs786204966
rs786204966
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204968
rs786204968
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204969
rs786204969
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204970
rs786204970
CDKL5
CA 0.700 CausalMutation CLINVAR

dbSNP: rs786204972
rs786204972
CDKL5
C 0.700 CausalMutation CLINVAR

dbSNP: rs786204975
rs786204975
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs786204976
rs786204976
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs786204981
rs786204981
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204983
rs786204983
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204984
rs786204984
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs786204986
rs786204986
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs786204988
rs786204988
CDKL5
AGT 0.700 CausalMutation CLINVAR

dbSNP: rs786204989
rs786204989
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204990
rs786204990
CDKL5
TTTTTA 0.700 CausalMutation CLINVAR

dbSNP: rs786204992
rs786204992
CDKL5
G 0.700 CausalMutation CLINVAR