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: 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: 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: rs1439287
rs1439287
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
0.925 0.120 2 111114320 non coding transcript exon variant G/A snv 0.42
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2014 2014
dbSNP: rs1439287
rs1439287
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
0.925 0.120 2 111114320 non coding transcript exon variant G/A snv 0.42
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2014 2014
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: 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: 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: 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: 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: rs7578982
rs7578982
ACOXL ; MIR4435-2HG
2 111078961 intron variant T/C snv 0.27
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs7578982
rs7578982
ACOXL ; MIR4435-2HG
2 111078961 intron variant T/C snv 0.27
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2011 2011
dbSNP: rs7578982
rs7578982
ACOXL ; MIR4435-2HG
2 111078961 intron variant T/C snv 0.27
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7578982
rs7578982
ACOXL ; MIR4435-2HG
2 111078961 intron variant T/C snv 0.27
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs4849381
rs4849381
ACOXL ; MIR4435-2HG
2 111076804 intron variant G/C snv 0.26
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: 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: 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: 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