Gene: SON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012