rs762292772, SHANK3

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.
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
ATRIAL SEPTAL DEFECT 1
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
16 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
10 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 0