rs1815739, ACTN3

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ACTN3 DEFICIENCY
CUI: C3888204
Disease: ACTN3 DEFICIENCY
1 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.710 1.000 1 2015 2015
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.700 1.000 1 2018 2018
SPRINTING PERFORMANCE
CUI: C3888203
Disease: SPRINTING PERFORMANCE
1 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.700 0
Muscle damage
CUI: C0410158
Disease: Muscle damage
4 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.030 1.000 3 2017 2019
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.020 1.000 2 2018 2019
Adolescent idiopathic scoliosis
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
1178 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2016 2016
Chronic heart failure
CUI: C0264716
Disease: Chronic heart failure
11 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
Glycogen Storage Disease Type V
CUI: C0017924
Disease: Glycogen Storage Disease Type V
76 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2018 2018
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2016 2016
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
170 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2017 2017
Muscular stiffness
CUI: C0221170
Disease: Muscular stiffness
6 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2018 2018
Myositis
CUI: C0027121
Disease: Myositis
43 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2012 2012
Pain
CUI: C0030193
Disease: Pain
196 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2019 2019
Sarcopenia
CUI: C0872084
Disease: Sarcopenia
10 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2011 2011
Sore to touch
CUI: C0234233
Disease: Sore to touch
8 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2018 2018