ACOXL, acyl-CoA oxidase like, 55289

N. diseases: 46; N. variants: 51
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: rs58055674
rs58055674 		0.925 0.120 2 111074216 intron variant T/C snv 0.13
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2017
dbSNP: rs58055674
rs58055674 		0.925 0.120 2 111074216 intron variant T/C snv 0.13
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2017
dbSNP: rs11888273
rs11888273 		1.000 0.040 2 110841146 intron variant A/G snv 1.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846 		0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846 		0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846 		0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846 		0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs13395354
rs13395354 		1.000 0.040 2 110842942 intron variant C/T snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1533295
rs1533295 		1.000 0.040 2 110840414 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1554005
rs1554005 		1.000 0.040 2 110841381 missense variant C/A;T snv 4.1E-06; 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17524344
rs17524344 		1.000 0.040 2 110841822 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109 		0.925 0.120 2 111061081 intron variant A/C snv 0.25
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109 		0.925 0.120 2 111061081 intron variant A/C snv 0.25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4849120
rs4849120 		1.000 0.040 2 110842024 intron variant A/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4849121
rs4849121 		0.925 0.160 2 110842129 intron variant G/A snv 0.44
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7558720
rs7558720 		1.000 0.040 2 110839714 intron variant C/T snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs116008367
rs116008367 		2 111049969 intron variant G/C snv 5.0E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs13395354
rs13395354 		1.000 0.040 2 110842942 intron variant C/T snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3789087
rs3789087 		2 111034076 intron variant C/T snv 0.14
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2018 2018
dbSNP: rs3789087
rs3789087 		2 111034076 intron variant C/T snv 0.14
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs3789134
rs3789134 		1.000 0.040 2 110922578 intron variant T/C snv 0.31
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4848366
rs4848366 		0.925 0.040 2 111005349 intron variant C/T snv 0.36
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4848366
rs4848366 		0.925 0.040 2 111005349 intron variant C/T snv 0.36
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6720034
rs6720034 		2 110907179 intron variant A/G snv 0.33
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs77004761
rs77004761 		2 111111114 intron variant T/A snv 7.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018