AGBL1, ATP/GTP binding protein like 1, 123624

N. diseases: 15; 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: rs2469184
rs2469184
15 86648746 intron variant A/G snv 0.54
Activated Partial Thromboplastin Time measurement
0.800 1.000 1 2012 2012
dbSNP: rs181958589
rs181958589
1.000 15 86674322 missense variant G/C snv 1.2E-03 1.2E-03
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.800 0
dbSNP: rs1010419
rs1010419
1.000 0.080 15 86992870 intron variant A/G snv 0.55
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10152333
rs10152333
1.000 0.080 15 86311128 intron variant T/C snv 0.57
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10152811
rs10152811
15 86311359 intron variant A/C snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2014 2014
dbSNP: rs10520617
rs10520617
15 86264311 synonymous variant C/T snv 0.17 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs10520638
rs10520638
15 86710303 intron variant C/T snv 5.4E-02
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement
0.700 1.000 1 2016 2016
dbSNP: rs10520638
rs10520638
15 86710303 intron variant C/T snv 5.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2016 2016
dbSNP: rs11856833
rs11856833
15 86264653 synonymous variant A/C snv 0.18 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs12438353
rs12438353
1.000 0.080 15 86771849 intron variant C/T snv 0.38
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs16977195
rs16977195
1.000 0.080 15 86441009 intron variant A/G snv 4.2E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs2701405
rs2701405
1.000 0.080 15 86996687 intron variant C/A snv 0.51
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4887217
rs4887217
15 86263440 intron variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4887425
rs4887425
15 86263599 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs62013859
rs62013859
1.000 0.080 15 86283609 intron variant G/T snv 3.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs72752186
rs72752186
15 86246747 intron variant G/T snv 0.13
CUI: C0428419
Disease: Triiodothyronine measurement
Triiodothyronine measurement
0.700 1.000 1 2019 2019
dbSNP: rs185919705
rs185919705
0.925 0.080 15 86674435 stop gained C/T snv 1.8E-03; 4.1E-06 2.0E-03
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 0
dbSNP: rs185919705
rs185919705
0.925 0.080 15 86674435 stop gained C/T snv 1.8E-03; 4.1E-06 2.0E-03
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;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: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;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: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4513061
rs4513061
0.807 0.080 15 86428401 intron variant G/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019