Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122454129
rs122454129
RPS6KA3
0.800 GeneticVariation UNIPROT Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996

2006
dbSNP: rs387906703
rs387906703
RPS6KA3
0.800 GeneticVariation UNIPROT Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996

2006
dbSNP: rs122454129
rs122454129
RPS6KA3
0.800 GeneticVariation UNIPROT A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. 10319851

1999
dbSNP: rs387906703
rs387906703
RPS6KA3
0.800 GeneticVariation UNIPROT A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. 10319851

1999
dbSNP: rs122454129
rs122454129
RPS6KA3
A 0.800 CausalMutation CLINVAR

dbSNP: rs387906703
rs387906703
RPS6KA3
A 0.800 CausalMutation CLINVAR

dbSNP: rs144984628
rs144984628
RPS6KA3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555924331
rs1555924331
RPS6KA3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569190602
rs1569190602
RPS6KA3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569216119
rs1569216119
RPS6KA3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398122813
rs398122813
RPS6KA3
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045920
rs797045920
RPS6KA3
G 0.700 CausalMutation CLINVAR

dbSNP: rs869320705
rs869320705
RPS6KA3
A 0.700 CausalMutation CLINVAR