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: rs121908182
rs121908182
SELENON
1.000 0.120 1 25809096 missense variant G/A snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.800 1.000 0 2001 2010
dbSNP: rs121908187
rs121908187
SELENON
1.000 0.120 1 25812789 missense variant T/G snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.800 1.000 0 2001 2009
dbSNP: rs1553120047
rs1553120047
SELENON
1.000 0.120 1 25808707 stop gained G/A snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs1553120202
rs1553120202
SELENON
1.000 0.120 1 25809731 stop gained G/A snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs1553198464
rs1553198464
SELENON
1.000 0.080 1 25800218 start lost AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- delins
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs1553198611
rs1553198611
SELENON
1.000 0.120 1 25801105 frameshift variant -/GG delins
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs1557814050
rs1557814050
SELENON
1.000 0.120 1 25800396 stop gained C/T snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs587776597
rs587776597
SELENON
1.000 0.120 1 25812790 stop gained G/A snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs797044621
rs797044621
SELENON
1.000 0.120 1 25800233 frameshift variant -/CGGCCGGGCC delins 7.3E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.700 0
dbSNP: rs797045950
rs797045950
SELENON
1.000 0.080 1 25809104 protein altering variant -/CCT delins
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs779162837
rs779162837
SELENON
1.000 0.120 1 25813899 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.800 1.000 1 2001 2010
dbSNP: rs121908186
rs121908186
SELENON
1.000 0.120 1 25812763 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.800 1.000 0 2001 2010
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.700 0