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: rs149509568
rs149509568 		1.000 0.040 3 114316541 mature miRNA variant A/G snv 4.0E-06 4.9E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs150263896
rs150263896 		3 114339010 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560092224
rs1560092224 		0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs483353063
rs483353063 		1.000 0.280 3 114339355 missense variant C/T snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064795382
rs1064795382 		1.000 0.280 3 114339358 missense variant T/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs483353070
rs483353070 		1.000 0.280 3 114339370 missense variant G/A snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs879255635
rs879255635 		3 114339384 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs483353069
rs483353069 		1.000 0.280 3 114339420 missense variant T/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353068
rs483353068 		1.000 0.280 3 114339426 missense variant C/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs483353067
rs483353067 		1.000 0.280 3 114350276 missense variant G/A;T snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560110565
rs1560110565 		1.000 0.280 3 114350278 missense variant G/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353066
rs483353066 		1.000 0.280 3 114350291 missense variant T/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs1057519435
rs1057519435 		1.000 0.280 3 114350292 missense variant G/A snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353065
rs483353065 		1.000 0.280 3 114350307 missense variant G/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353064
rs483353064 		1.000 0.280 3 114350310 missense variant T/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs1553794464
rs1553794464 		1.000 3 114350821 frameshift variant -/C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2009 2017
dbSNP: rs1553794464
rs1553794464 		1.000 3 114350821 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2017
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2018 2018