rs886041097, NAA15

N. diseases: 9
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 0.160 4 139386152 stop gained C/G snv 0.700 0
Delayed speech and language development
192 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Epicanthus inversus
CUI: C1303003
Disease: Epicanthus inversus
1 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
12 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
Obsessive-compulsive trait
CUI: C1834433
Disease: Obsessive-compulsive trait
1 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0