SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Cornelia de Lange 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: rs587784427
rs587784427 		1.000 0.080 10 110599723 missense variant G/C snv
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0