ANGPT2, angiopoietin 2, 285

N. diseases: 457; N. variants: 17
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: rs76020419
rs76020419 		8 6502768 3 prime UTR variant G/T snv 2.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 2018 2018
dbSNP: rs2442604
rs2442604 		8 6531012 intron variant T/C snv 0.43
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2922895
rs2922895 		8 6522411 intron variant G/C snv 0.41
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs76020419
rs76020419 		8 6502768 3 prime UTR variant G/T snv 2.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs201599657
rs201599657 		1.000 0.120 8 6499860 stop gained G/A;T snv 1.1E-04
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs11137037
rs11137037 		0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11137037
rs11137037 		0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11137037
rs11137037 		0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11137037
rs11137037 		0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11775442
rs11775442 		0.925 0.040 8 6538837 intron variant A/G snv 0.20
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11775442
rs11775442 		0.925 0.040 8 6538837 intron variant A/G snv 0.20
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2017 2017
dbSNP: rs12674822
rs12674822 		0.851 0.200 8 6531695 intron variant T/G snv 0.49
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12674822
rs12674822 		0.851 0.200 8 6531695 intron variant T/G snv 0.49
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12674822
rs12674822 		0.851 0.200 8 6531695 intron variant T/G snv 0.49
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12674822
rs12674822 		0.851 0.200 8 6531695 intron variant T/G snv 0.49
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13269021
rs13269021 		0.925 0.040 8 6539242 intron variant G/A;T snv
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13269021
rs13269021 		0.925 0.040 8 6539242 intron variant G/A;T snv
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2017 2017
dbSNP: rs1823375
rs1823375 		1.000 0.120 8 6539477 intron variant G/C snv 0.55
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1868554
rs1868554 		1.000 0.040 8 6529226 intron variant T/A;C;G snv
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2442598
rs2442598 		0.925 0.120 8 6537300 intron variant T/C snv 0.71
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2442598
rs2442598 		0.925 0.120 8 6537300 intron variant T/C snv 0.71
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2515475
rs2515475 		1.000 0.040 8 6530918 intron variant C/T snv 0.19
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3739390
rs3739390 		1.000 0.040 8 6562969 5 prime UTR variant C/G snv 6.7E-02 5.9E-02
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3739391
rs3739391 		1.000 0.120 8 6563013 5 prime UTR variant A/G snv 0.69
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3739391
rs3739391 		1.000 0.120 8 6563013 5 prime UTR variant A/G snv 0.69
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010