Disease: Digital Arthropathy-Brachydactyly, Familial ×
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: rs387907219
rs387907219 		1.000 0.080 12 109800659 missense variant C/G;T snv 1.6E-05
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs387907220
rs387907220 		1.000 0.080 12 109800662 missense variant C/A snv
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs515726170
rs515726170 		1.000 0.080 12 109800652 missense variant G/C snv
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs267607144
rs267607144 		0.716 0.360 12 109800665 missense variant C/T snv
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0