Source: CLINVAR ×
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 fear/anxiety-related behavior
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
7 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
18 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
22 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
51 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
69 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
49 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
47 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
17 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
48 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0