rs796053356, STXBP1

N. diseases: 4
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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
Photosensitive tonic-clonic seizures
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
1 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0