Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150449635
rs150449635
ACOXL
2 110994574 intron variant T/C snv 1.5E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs150784178
rs150784178
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
2 111116484 intron variant CTCTGAAAACCTGAAATG/- delins 0.11
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1533295
rs1533295
ACOXL
1.000 0.040 2 110840414 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs1554005
rs1554005
ACOXL
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 		0.700 1.000 1 2017 2017
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
0.827 0.280 2 111039881 intron variant A/G snv 0.15
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
0.827 0.280 2 111039881 intron variant A/G snv 0.15
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.700 1.000 1 2012 2012
dbSNP: rs17524344
rs17524344
ACOXL
1.000 0.040 2 110841822 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs1866493
rs1866493
ACOXL ; MIR4435-2HG
2 111089501 intron variant A/T snv 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2009581
rs2009581
ACOXL ; MIR4435-2HG
2 111050100 intron variant G/A snv 0.26
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs2009581
rs2009581
ACOXL ; MIR4435-2HG
2 111050100 intron variant G/A snv 0.26
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs2009581
rs2009581
ACOXL ; MIR4435-2HG
2 111050100 intron variant G/A snv 0.26
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2062225
rs2062225
ACOXL
2 110993295 intron variant A/C;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2062225
rs2062225
ACOXL
2 110993295 intron variant A/C;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
0.925 0.120 2 111061081 intron variant A/C snv 0.25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
0.925 0.120 2 111061081 intron variant A/C snv 0.25
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs2341917
rs2341917
ACOXL
1.000 0.040 2 110953512 intron variant A/G snv 0.12
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2015 2015
dbSNP: rs2880119
rs2880119
ACOXL ; MIR4435-2HG
2 111051753 intron variant C/A;T snv
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		0.700 1.000 1 2019 2019
dbSNP: rs34931195
rs34931195
ACOXL ; MIR4435-2HG
2 111074488 intron variant T/A snv 0.27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3789087
rs3789087
ACOXL ; MIR4435-2HG
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: rs3789087
rs3789087
ACOXL ; MIR4435-2HG
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: rs3789088
rs3789088
ACOXL ; MIR4435-2HG
2 111033227 intron variant G/C snv 0.14
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3789088
rs3789088
ACOXL ; MIR4435-2HG
2 111033227 intron variant G/C snv 0.14
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs3789129
rs3789129
ACOXL
1.000 0.040 2 110940463 intron variant A/C snv 0.18
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.700 1.000 1 2015 2015
dbSNP: rs3789134
rs3789134
ACOXL
1.000 0.040 2 110922578 intron variant T/C snv 0.31
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.700 1.000 1 2018 2018
dbSNP: rs4848366
rs4848366
ACOXL
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