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 delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
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
CUI: C4073241
Disease: 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 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
Abnormality of the tympanic membrane
CUI: C4022447
Disease: 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
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Asthma
CUI: C0004096
Disease: Asthma
1536 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
BAINBRIDGE-ROPERS SYNDROME
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
17 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 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
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
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
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 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
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 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
CUI: C0409348
Disease: 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
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
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
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 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