Disease: Congenital macrodactylia ×
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: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 2 2013 2017
dbSNP: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913281
rs121913281 		0.623 0.520 3 179234296 missense variant C/T snv
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0