rs1380822792, NAA15

N. diseases: 7
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.
Biting self
CUI: C0424375
Disease: Biting self
3 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
12 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
Skin-picking
CUI: C1696701
Disease: Skin-picking
2 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0