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: C1854882
Disease: Absent speech
Absent speech 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1398312
Disease: Narrow palate
Narrow palate 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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