LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: Tibia, Hypoplasia of, with Polydactyly ×
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: rs587779752
rs587779752 		0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231147
rs606231147 		1.000 0.080 7 156791472 intron variant C/T snv
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0