Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894917
rs104894917
PHF6
0.800 GeneticVariation UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs104894917
rs104894917
PHF6
0.800 GeneticVariation UNIPROT PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. 23229552

2013
dbSNP: rs104894918
rs104894918
PHF6
0.800 GeneticVariation UNIPROT PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. 23229552

2013
dbSNP: rs104894918
rs104894918
PHF6
0.800 GeneticVariation UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs104894919
rs104894919
PHF6
0.800 GeneticVariation UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs104894919
rs104894919
PHF6
0.800 GeneticVariation UNIPROT PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. 23229552

2013
dbSNP: rs587777489
rs587777489
PHF6
0.800 GeneticVariation UNIPROT PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. 23229552

2013
dbSNP: rs587777489
rs587777489
PHF6
0.800 GeneticVariation UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs104894917
rs104894917
PHF6
0.800 GeneticVariation UNIPROT Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002
dbSNP: rs104894918
rs104894918
PHF6
0.800 GeneticVariation UNIPROT Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002
dbSNP: rs104894919
rs104894919
PHF6
0.800 GeneticVariation UNIPROT Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002
dbSNP: rs587777489
rs587777489
PHF6
0.800 GeneticVariation UNIPROT Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002
dbSNP: rs104894917
rs104894917
PHF6
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894918
rs104894918
PHF6
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894919
rs104894919
PHF6
G 0.800 CausalMutation CLINVAR

dbSNP: rs132630298
rs132630298
PHF6
0.800 GeneticVariation UNIPROT

dbSNP: rs132630298
rs132630298
PHF6
T 0.800 CausalMutation CLINVAR

dbSNP: rs132630299
rs132630299
PHF6
0.800 GeneticVariation UNIPROT

dbSNP: rs132630299
rs132630299
PHF6
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777489
rs587777489
PHF6
T 0.800 CausalMutation CLINVAR

dbSNP: rs132630301
rs132630301
PHF6
0.710 GeneticVariation BEFREE We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. 14714754

2003
dbSNP: rs132630301
rs132630301
PHF6
T 0.710 CausalMutation CLINVAR

dbSNP: rs1569334260
rs1569334260
PHF6
A 0.700 GeneticVariation CLINVAR Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. 27633282

2016
dbSNP: rs132630300
rs132630300
PHF6
C 0.700 CausalMutation CLINVAR Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 15994862

2006
dbSNP: rs132630300
rs132630300
PHF6
C 0.700 CausalMutation CLINVAR Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002