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: 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: 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: 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: 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: 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: 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: 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: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.720 0.667 3 2011 2016
dbSNP: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.720 0.667 3 2011 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: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
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
dbSNP: rs9841504
rs9841504 		0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 1.000 1 2017 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
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm 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: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2018 2018
dbSNP: rs10511330
rs10511330 		0.776 0.080 3 114402172 intron variant T/C snv 0.22
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018