rs373145711, ASXL1

N. diseases: 25
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 corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Bohring syndrome
CUI: C0796232
Disease: Bohring syndrome
15 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Congenital ear anomaly NOS (disorder)
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
5 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Glabellar hemangioma
CUI: C1854408
Disease: Glabellar hemangioma
4 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Hyperconvex fingernails
CUI: C1844825
Disease: Hyperconvex fingernails
1 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Prominent metopic ridge
CUI: C1857949
Disease: Prominent metopic ridge
2 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Small anterior fontanelle
CUI: C1859455
Disease: Small anterior fontanelle
4 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
Thickened ears
CUI: C4024168
Disease: Thickened ears
1 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0