Source: CLINVAR

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: rs368104077
rs368104077
SELENON
1.000 0.120 1 25808753 frameshift variant -/A delins
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 4 2002 2017
dbSNP: rs1174570887
rs1174570887
SELENON
1.000 0.120 1 25800232 start lost T/A;C;G snv 7.4E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 3 2002 2013
dbSNP: rs121908184
rs121908184
SELENON
1.000 0.120 1 25800231 start lost A/G snv 4.5E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 3 2002 2013
dbSNP: rs773670891
rs773670891
SELENON
1.000 0.120 1 25802115 splice donor variant GAGT/- delins 1.1E-04 3.2E-04
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 2 2011 2011
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 1 2011 2011
dbSNP: rs377215510
rs377215510
SELENON
1.000 0.120 1 25812720 stop gained C/G;T snv 2.8E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 1.000 1 2005 2005
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C4023918
Disease: Short hard palate
Short hard palate 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 0