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: rs200857997
rs200857997 		0.925 0.040 4 184659424 missense variant T/C;G snv 1.2E-05; 4.4E-04
CUI: C3809464
Disease: MYOPIA 22, AUTOSOMAL DOMINANT
MYOPIA 22, AUTOSOMAL DOMINANT 		0.800 1.000 2 2013 2014
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647603
rs4647603 		0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603 		0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs113420705
rs113420705 		0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs113420705
rs113420705 		0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs113420705
rs113420705 		0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs113420705
rs113420705 		0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1405937
rs1405937 		1.000 0.080 4 184650784 intron variant G/C snv 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs200857997
rs200857997 		0.925 0.040 4 184659424 missense variant T/C;G snv 1.2E-05; 4.4E-04
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4647601
rs4647601 		0.851 0.160 4 184648878 intron variant C/A snv 0.35
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4647601
rs4647601 		0.851 0.160 4 184648878 intron variant C/A snv 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4647601
rs4647601 		0.851 0.160 4 184648878 intron variant C/A snv 0.35
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4647601
rs4647601 		0.851 0.160 4 184648878 intron variant C/A snv 0.35
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4647601
rs4647601 		0.851 0.160 4 184648878 intron variant C/A snv 0.35
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4647602
rs4647602 		0.925 0.120 4 184648647 intron variant G/T snv 9.5E-02
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4647602
rs4647602 		0.925 0.120 4 184648647 intron variant G/T snv 9.5E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4647602
rs4647602 		0.925 0.120 4 184648647 intron variant G/T snv 9.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018