Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs376997378
rs376997378
ASXL3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1131691668
rs1131691668
ASXL3
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs377619533
rs377619533
ASXL3
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1131691668
rs1131691668
ASXL3
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0003467
Disease: Anxiety
Anxiety 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0004096
Disease: Asthma
Asthma 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		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: rs1568359734
rs1568359734
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		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

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555742167
rs1555742167
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		CT 0.700 CausalMutation CLINVAR