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: 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: 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: 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: 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: 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: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2014 2014
dbSNP: rs4849303
rs4849303
ACOXL
0.790 0.080 2 110970905 intron variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2014 2014
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: 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: 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: rs4848370
rs4848370
ACOXL ; MIR4435-2HG
2 111054088 intron variant C/T snv 0.25
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs4848370
rs4848370
ACOXL ; MIR4435-2HG
2 111054088 intron variant C/T snv 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
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: 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: 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