rs1554137531, TCOF1

N. diseases: 1
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.
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
30 1.000 0.120 5 150376563 frameshift variant CT/- delins 0.700 0