rs1553212868, POGZ

N. diseases: 17
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Decreased lacrimation
CUI: C0235857
Disease: Decreased lacrimation
1 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Inability to walk by childhood/adolescence
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
2 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
11 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0