rs869312877, CHD2

N. diseases: 3
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.160 15 92997299 frameshift variant -/G delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
43 0.925 0.160 15 92997299 frameshift variant -/G delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.160 15 92997299 frameshift variant -/G delins 0.700 0