rs1554777480, STXBP1

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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 9 127666235 missense variant C/G snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 9 127666235 missense variant C/G snv 0.700 0