RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
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: rs12962334
rs12962334 		1.000 0.080 18 22897971 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs8085287
rs8085287 		18 22884208 intron variant A/C snv 0.68
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9963862
rs9963862 		1.000 0.120 18 23007948 intron variant G/A;C snv
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
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: rs587776884
rs587776884 		1.000 0.240 18 22993634 frameshift variant TA/- delins
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 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