rs1554080460, TCOF1

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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.925 0.120 5 150396468 frameshift variant -/G delins 0.700 0
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
30 0.925 0.120 5 150396468 frameshift variant -/G delins 0.700 0