rs1060503383, SYNGAP1

N. diseases: 14
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 behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Bulbous tips of toes
CUI: C4025747
Disease: Bulbous tips of toes
1 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Delayed speech and language development
192 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Mental Retardation, Autosomal Dominant 5
64 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0