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: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
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: C0426891
Disease: Broad thumbs
Broad thumbs 		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: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		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: 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: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 5 2002 2013
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: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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: 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: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
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: 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: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 0
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		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: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.810 1.000 6 2001 2013
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: rs121908185
rs121908185
SELENON
1.000 0.120 1 25813890 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		0.800 1.000 2 2001 2009
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