rs1554121671, SYNGAP1

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.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0