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: 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: 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: rs7599513
rs7599513
ACOXL ; MIR4435-2HG
2 111065699 intron variant A/C snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs875063
rs875063
ACOXL ; MIR4435-2HG
2 111055508 intron variant A/C snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs56088557
rs56088557
ACOXL
2 110979246 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
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: rs7575878
rs7575878
ACOXL ; MIR4435-2HG
2 111079087 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
0.827 0.280 2 111039881 intron variant A/G snv 0.15
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 3 2008 2013
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
0.827 0.280 2 111039881 intron variant A/G snv 0.15
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.830 1.000 3 2008 2013
dbSNP: rs10207392
rs10207392
ACOXL ; MIR4435-2HG
2 111092082 intron variant A/G snv 0.48
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2012 2012
dbSNP: rs10207392
rs10207392
ACOXL ; MIR4435-2HG
2 111092082 intron variant A/G snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11888273
rs11888273
ACOXL
1.000 0.040 2 110841146 intron variant A/G snv 1.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
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 		0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
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 		0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		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: 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: rs4849120
rs4849120
ACOXL
1.000 0.040 2 110842024 intron variant A/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs6720034
rs6720034
ACOXL
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: rs6732565
rs6732565
ACOXL
1.000 0.120 2 110850255 intron variant A/G snv 0.38
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.800 1.000 1 2014 2014
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