Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 ×
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: rs121908315
rs121908315 		1.000 0.120 19 3653454 missense variant C/T snv
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2007 2007