Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0578038
Disease: Thin lips
Thin lips 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.700 1.000 1 2016 2016