BMS1, BMS1 ribosome biogenesis factor, 9790

N. diseases: 192; N. variants: 3
Disease: Aplasia Cutis Congenita ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777706
rs587777706 		1.000 0.080 10 42820527 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 1 2013 2013