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: rs886040856
rs886040856 		1.000 0.240 X 24066002 missense variant T/G snv
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.810 1.000 4 2012 2019
dbSNP: rs886040855
rs886040855 		1.000 0.240 X 24064228 missense variant T/C snv
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs1057515578
rs1057515578 		1.000 0.240 X 24057695 missense variant T/A;C snv 5.5E-06
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.710 1.000 1 2017 2017
dbSNP: rs5990018
rs5990018 		X 24054614 upstream gene variant T/G snv 6.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs751468976
rs751468976 		1.000 0.240 X 24060135 missense variant C/A;T snv
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886040857
rs886040857 		0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0