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: rs121913028
rs121913028 		0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2007 2013
dbSNP: rs121913028
rs121913028 		0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs150584960
rs150584960 		1.000 0.280 19 45421315 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs886039224
rs886039224 		1.000 0.160 19 45414887 stop gained T/A snv
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121913027
rs121913027 		1.000 0.280 19 45419151 stop gained G/A snv
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs879255589
rs879255589 		1.000 0.040 19 45478610 intron variant G/A;C snv
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		Endocrine System Diseases 0.700 0
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.100 0.818 11 2012 2018
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.100 0.818 11 2012 2018
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.100 0.818 11 2012 2018
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.090 0.889 9 2011 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.080 1.000 8 2013 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.080 1.000 8 2013 2019
dbSNP: rs3212986
rs3212986 		0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.070 0.857 7 2014 2017
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.667 6 2011 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.060 1.000 6 2014 2016
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.060 1.000 6 2014 2016
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2012 2016
dbSNP: rs3212986
rs3212986 		0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.833 6 2015 2018
dbSNP: rs3212986
rs3212986 		0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.060 0.833 6 2015 2018
dbSNP: rs3212986
rs3212986 		0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2012 2019
dbSNP: rs3212986
rs3212986 		0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.667 6 2014 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2012 2015
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2012 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2012 2019
dbSNP: rs11615
rs11615 		0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2012 2019