rs1555743003, ASXL3

N. diseases: 58
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal epiglottis morphology
CUI: C4025190
Disease: Abnormal epiglottis morphology
1 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Abnormality of nasopharyngeal adenoids
1 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Abnormality of the tympanic membrane
1 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Glossoptosis
CUI: C0267048
Disease: Glossoptosis
1 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Abnormality of the columella
CUI: C4024158
Disease: Abnormality of the columella
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Fibular bowing
CUI: C4023801
Disease: Fibular bowing
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Gait, Shuffling
CUI: C0231688
Disease: Gait, Shuffling
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Hyperactive deep tendon reflexes
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Madelung Deformity
CUI: C0152441
Disease: Madelung Deformity
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Multiple skeletal anomalies
CUI: C4025138
Disease: Multiple skeletal anomalies
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Toenail dysplasia
CUI: C3276623
Disease: Toenail dysplasia
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Tooth, Supernumerary
CUI: C0040457
Disease: Tooth, Supernumerary
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Ulnar deviation of hand
CUI: C0241521
Disease: Ulnar deviation of hand
2 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Long neck
CUI: C1839816
Disease: Long neck
3 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Prominent digit pad
CUI: C4023424
Disease: Prominent digit pad
3 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
5 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Metopic synostosis
CUI: C1860819
Disease: Metopic synostosis
5 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Narrow palate
CUI: C1398312
Disease: Narrow palate
5 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Leg Length Inequality
CUI: C0023221
Disease: Leg Length Inequality
6 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Flexion contracture of proximal interphalangeal joint
7 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016