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: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1164376164
rs1164376164 		0.851 0.200 7 87601024 5 prime UTR variant A/G snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1164376164
rs1164376164 		0.851 0.200 7 87601024 5 prime UTR variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302 		0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302 		0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302 		0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302 		0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1164376164
rs1164376164 		0.851 0.200 7 87601024 5 prime UTR variant A/G snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139 		0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139 		0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139 		0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2007 2007