rs121908188, SELENON

N. diseases: 25
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.
Eichsfeld type congenital muscular dystrophy
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
24 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.810 1.000 10 2001 2013
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.810 1.000 5 2002 2013
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Congenital hypoplasia of radius
CUI: C0685381
Disease: Congenital hypoplasia of radius
5 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Flexion contracture of hip
CUI: C0409354
Disease: Flexion contracture of hip
5 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
7 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Hyperemesis Gravidarum
CUI: C0020450
Disease: Hyperemesis Gravidarum
7 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Limited knee flexion/extension
CUI: C1968606
Disease: Limited knee flexion/extension
4 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Limited pronation/supination of forearm
CUI: C1861331
Disease: Limited pronation/supination of forearm
3 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Pulmonary Embolism
CUI: C0034065
Disease: Pulmonary Embolism
16 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Restrictive deficit on pulmonary function testing
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
6 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Short hard palate
CUI: C4023918
Disease: Short hard palate
4 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Thoracic kyphosis
CUI: C1184919
Disease: Thoracic kyphosis
4 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Triangular-shaped open mouth
CUI: C1859292
Disease: Triangular-shaped open mouth
3 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Ulnar deviation of the wrist
CUI: C0231678
Disease: Ulnar deviation of the wrist
9 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
Velopharyngeal Insufficiency
CUI: C0042454
Disease: Velopharyngeal Insufficiency
6 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0