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: rs7558720
rs7558720
ACOXL
1.000 0.040 2 110839714 intron variant C/T snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: rs4849121
rs4849121
ACOXL
0.925 0.160 2 110842129 intron variant G/A snv 0.44
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.800 1.000 1 2011 2011
dbSNP: rs4849121
rs4849121
ACOXL
0.925 0.160 2 110842129 intron variant G/A snv 0.44
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4849121
rs4849121
ACOXL
0.925 0.160 2 110842129 intron variant G/A snv 0.44
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs13395354
rs13395354
ACOXL
1.000 0.040 2 110842942 intron variant C/T snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs13395354
rs13395354
ACOXL
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: rs11123201
rs11123201
ACOXL
2 110843901 intron variant G/A snv 0.36
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7576541
rs7576541
ACOXL
2 110849824 intron variant C/A;G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
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: rs10197140
rs10197140
ACOXL
2 110852366 intron variant T/C snv 0.28
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs10197140
rs10197140
ACOXL
2 110852366 intron variant T/C snv 0.28
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs10197140
rs10197140
ACOXL
2 110852366 intron variant T/C snv 0.28
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs4849135
rs4849135
ACOXL
1.000 0.120 2 110857502 intron variant T/G snv 0.67
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2015 2015
dbSNP: rs13401811
rs13401811
ACOXL
0.925 0.120 2 110858527 intron variant G/A snv 0.19
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2013 2013
dbSNP: rs13401811
rs13401811
ACOXL
0.925 0.120 2 110858527 intron variant G/A snv 0.19
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2013 2013
dbSNP: rs952249
rs952249
ACOXL
2 110859574 intron variant G/A snv 0.34
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4849162
rs4849162
ACOXL
2 110881658 intron variant T/C snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4849165
rs4849165
ACOXL
2 110882012 intron variant T/C snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: 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