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: 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: 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: rs10804515
rs10804515 		3 114983210 intron variant A/G snv 0.60
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2007 2007
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: rs17619973
rs17619973 		3 114698828 intron variant A/G snv 5.1E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1533269
rs1533269 		3 114495764 intron variant C/A snv 0.43
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: 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: 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: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs139459337
rs139459337 		0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2018 2018
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: 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: rs17681451
rs17681451 		3 114680449 intron variant G/A snv 5.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: 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: 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