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: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs17632578
rs17632578 		1.000 0.040 6 117341781 intron variant C/T snv 9.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1894674
rs1894674 		1.000 0.040 6 117338690 intron variant C/G snv 9.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs210966
rs210966 		6 117303435 intron variant C/G snv 0.74
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs210967
rs210967 		1.000 0.080 6 117303386 intron variant C/G snv 0.62
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		Infections; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2157535
rs2157535 		1.000 0.040 6 117347826 intron variant G/A snv 0.79
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2301485
rs2301485 		1.000 0.040 6 117340261 intron variant A/G snv 9.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3798379
rs3798379 		1.000 0.040 6 117346046 intron variant T/C snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6913494
rs6913494 		0.925 0.040 6 117424500 intron variant C/T snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6913494
rs6913494 		0.925 0.040 6 117424500 intron variant C/T snv 0.13
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1444274116
rs1444274116 		1.000 0.080 6 117393231 missense variant A/G snv 1.4E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs61743088
rs61743088 		6 117394232 missense variant C/G;T snv 1.5E-03; 8.1E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs776274768
rs776274768 		6 117342468 frameshift variant T/-;TT delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2013 2015
dbSNP: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2015 2019
dbSNP: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs1213277193
rs1213277193 		1.000 0.080 6 117359856 missense variant C/T snv 1.4E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs619203
rs619203 		0.851 0.160 6 117301021 missense variant G/C snv 0.20 0.19
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2009 2011
dbSNP: rs1057519788
rs1057519788 		0.925 0.080 6 117317184 missense variant C/T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2018 2018
dbSNP: rs1213277193
rs1213277193 		1.000 0.080 6 117359856 missense variant C/T snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1484038087
rs1484038087 		1.000 0.040 6 117317181 missense variant C/T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3798377
rs3798377 		0.925 0.080 6 117322969 intron variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3798377
rs3798377 		0.925 0.080 6 117322969 intron variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs529038
rs529038 		0.827 0.120 6 117301070 missense variant C/G;T snv 0.20 0.19
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009