GPC6, glypican 6, 10082

N. diseases: 86; N. variants: 15
Disease: Omodysplasia type 1 ×
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: rs121908440
rs121908440 		1.000 0.120 13 93830534 stop gained C/T snv 4.0E-06
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863223282
rs863223282 		1.000 0.120 13 94027795 frameshift variant C/- del
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0