rs781565158, PYROXD1

N. diseases: 22
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.
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.010 1.000 1 2018 2018
Decreased testosterone in males
CUI: C1860121
Disease: Decreased testosterone in males
3 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Difficulty running
CUI: C0560346
Disease: Difficulty running
3 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
6 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Intention tremor
CUI: C4551520
Disease: Intention tremor
6 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Long fingers
CUI: C1858091
Disease: Long fingers
6 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Quadriceps weakness
CUI: C0577655
Disease: Quadriceps weakness
1 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Spasm
CUI: C0037763
Disease: Spasm
9 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
Waddling gait
CUI: C0231712
Disease: Waddling gait
8 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
MYOPATHY, MYOFIBRILLAR, 8
CUI: C4310645
Disease: MYOPATHY, MYOFIBRILLAR, 8
5 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.800 1.000 1 2016 2016