CEP19, centrosomal protein 19, 84984

N. diseases: 21; N. variants: 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: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304 		0.851 0.160 3 196707860 stop gained -/T delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 1.000 1 2018 2018
dbSNP: rs587777230
rs587777230 		0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05
CUI: C3810324
Disease: MORBID OBESITY AND SPERMATOGENIC FAILURE
MORBID OBESITY AND SPERMATOGENIC FAILURE 		0.700 0
dbSNP: rs587777230
rs587777230 		0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 0.500 2 2017 2018
dbSNP: rs587777230
rs587777230 		0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2017 2017
dbSNP: rs587777230
rs587777230 		0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018