SMAD1, SMAD family member 1, 4086

N. diseases: 138; N. variants: 2
Disease: Fibrodysplasia Ossificans Progressiva ×
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: rs1164715949
rs1164715949 		1.000 0.040 4 145539990 missense variant C/T snv 4.0E-06
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011