rs1555910143, SHANK3

N. diseases: 2
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.
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
10 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 0