ANGPT1, angiopoietin 1, 284

N. diseases: 340; N. variants: 18
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: rs4496939
rs4496939
8 107422472 intron variant A/G snv 0.71
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 2 2018 2018
dbSNP: rs10105844
rs10105844
8 107278644 intron variant G/A snv 0.78
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2017 2017
dbSNP: rs10505100
rs10505100
1.000 0.040 8 107266388 intron variant C/A snv 0.13
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10505102
rs10505102
8 107276121 intron variant T/A snv 0.13
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs1283686
rs1283686
8 107405173 intron variant C/T snv 0.48
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs1283705
rs1283705
8 107388883 intron variant T/A snv 0.47
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs13270051
rs13270051
8 107276524 intron variant C/T snv 0.19
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs145224266
rs145224266
8 107388433 intron variant TAAATAAA/-;TAAA;TAAATAAATAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1654723
rs1654723
8 107381731 intron variant A/G snv 0.48
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs2514882
rs2514882
1.000 0.040 8 107263553 intron variant C/T snv 0.85
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs66602224
rs66602224
8 107281490 intron variant G/A snv 0.39
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs7004172
rs7004172
8 107328754 intron variant G/A;C snv 0.42
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs73701100
rs73701100
8 107339931 intron variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs764987358
rs764987358
1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1654701
rs1654701
0.882 0.080 8 107366717 intron variant G/A snv 0.52
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: rs1654701
rs1654701
0.882 0.080 8 107366717 intron variant G/A snv 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1654701
rs1654701
0.882 0.080 8 107366717 intron variant G/A snv 0.52
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1954727
rs1954727
1.000 0.080 8 107250906 3 prime UTR variant C/G snv 0.64
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2507800
rs2507800
1.000 0.040 8 107250441 3 prime UTR variant T/A snv 0.36
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2507800
rs2507800
1.000 0.040 8 107250441 3 prime UTR variant T/A snv 0.36
CUI: C0013537
Disease: Eclampsia
Eclampsia
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs4262299
rs4262299
0.882 0.080 8 107330035 intron variant A/C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4262299
rs4262299
0.882 0.080 8 107330035 intron variant A/C;T snv
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: rs4262299
rs4262299
0.882 0.080 8 107330035 intron variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs764987358
rs764987358
1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019