Disease: Dwarfism ×
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: rs1057517917
rs1057517917 		0.925 0.200 12 112450368 missense variant AT/GC mnv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs121918456
rs121918456 		0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121918459
rs121918459 		0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006