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: rs1882289
rs1882289 		3 114742361 intron variant G/A snv 0.81
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2055981
rs2055981 		3 114485122 intron variant T/C snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2399510
rs2399510 		3 114834387 intron variant C/A snv 0.82
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6438208
rs6438208 		3 114451425 intron variant G/A snv 0.37
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs7643617
rs7643617 		3 115034231 intron variant A/C;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs7647708
rs7647708 		3 114463586 intron variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017