RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: SECKEL SYNDROME 2 ×
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: rs373804633
rs373804633 		1.000 0.160 18 22968855 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 2 2011 2014
dbSNP: rs587776883
rs587776883 		1.000 0.160 18 23001782 intron variant T/G snv
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587780432
rs587780432 		1.000 0.160 18 22982394 splice donor variant G/T snv 4.0E-06
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0