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: 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: 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: 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: 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: 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: rs56952027
rs56952027
BCL2L11 ; ACOXL ; MIR4435-2HG
2 111119527 5 prime UTR variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs72836346
rs72836346
BCL2L11 ; ACOXL ; MIR4435-2HG
2 111119036 intron variant G/A;C snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: rs116008367
rs116008367
ACOXL ; MIR4435-2HG
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
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: 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: 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: 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: rs77004761
rs77004761
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
2 111111114 intron variant T/A snv 7.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
0.925 0.120 2 111074216 intron variant T/C snv 0.13
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 2 2016 2017
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
0.925 0.120 2 111074216 intron variant T/C snv 0.13
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 2 2016 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: 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