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: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1129293
rs1129293 		0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293 		0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293 		0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 1.000 1 2018 2018
dbSNP: rs1226137439
rs1226137439 		1.000 0.120 7 106868830 synonymous variant G/A snv 4.0E-06
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1226994105
rs1226994105 		0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1226994105
rs1226994105 		0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105 		0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105 		0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1226994105
rs1226994105 		0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs12536620
rs12536620 		1.000 0.040 7 106904783 intron variant A/G snv 0.42
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs12667819
rs12667819 		1.000 0.040 7 106906212 3 prime UTR variant G/A snv 0.41
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548 		0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016