rs370717845, HGSNAT

N. diseases: 33
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.
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Restlessness
CUI: C3887611
Disease: Restlessness
4 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Social Communication Disorder
CUI: C0150080
Disease: Social Communication Disorder
4 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Social disinhibition
CUI: C0424296
Disease: Social disinhibition
5 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0