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: 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: 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: 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: 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: 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: rs13413838
rs13413838
ACOXL
2 110937220 intron variant G/C snv 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs139153935
rs139153935
ACOXL
2 110995154 intron variant T/G snv 3.3E-03
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs150449635
rs150449635
ACOXL
2 110994574 intron variant T/C snv 1.5E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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
dbSNP: rs4848366
rs4848366
ACOXL
0.925 0.040 2 111005349 intron variant C/T snv 0.36
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
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