Source: CURATED

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: C0034012
Disease: Delayed Puberty
Delayed Puberty 		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: 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: C0003467
Disease: Anxiety
Anxiety 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		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: C0004096
Disease: Asthma
Asthma 		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: 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: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		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: 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: C0426891
Disease: Broad thumbs
Broad thumbs 		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: 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: 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: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		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: 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: 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: 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: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 1.000 1 2016 2016