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: 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: 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: 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: 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: rs56088557
rs56088557
ACOXL
2 110979246 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
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: 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: 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: 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: rs3789088
rs3789088
ACOXL ; MIR4435-2HG
2 111033227 intron variant G/C snv 0.14
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3789088
rs3789088
ACOXL ; MIR4435-2HG
2 111033227 intron variant G/C snv 0.14
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
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: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
0.827 0.280 2 111039881 intron variant A/G snv 0.15
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 3 2008 2013