Gene: SON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686

2010
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448

2010
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448

2010