Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045317
rs797045317
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587777062
rs587777062
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777061
rs587777061
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs376997378
rs376997378
ASXL3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C1305740
Disease: Overbite
Overbite 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0014877
Disease: Esotropia
Esotropia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555744282
rs1555744282
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555744086
rs1555744086
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555744039
rs1555744039
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 GeneticVariation CLINVAR