rs886041506, 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 150374812 splice donor variant G/A snv 0.700 1.000 2 1996 2012