rs878853163, SATB2

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.
Chromosome 2q32-Q33 Deletion Syndrome
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
25 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0