Gene: SATB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 19668335

2009
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 19668335

2009
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962

2007
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962

2007
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803

2006
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105

2006
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803

2006
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105

2006
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Identification of SATB2 as the cleft palate gene on 2q32-q33. 12915443

2003
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Identification of SATB2 as the cleft palate gene on 2q32-q33. 12915443

2003
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A locus for isolated cleft palate, located on human chromosome 2q32. 10417281

1999
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR A locus for isolated cleft palate, located on human chromosome 2q32. 10417281

1999
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 2918541

1989
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 2918541

1989