Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606960
rs267606960 		0.827 0.160 1 46192168 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.800 1.000 8 2004 2014
dbSNP: rs267606962
rs267606962 		0.882 0.120 1 46189539 missense variant C/G;T snv 8.0E-06; 1.6E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.800 1.000 7 2006 2014
dbSNP: rs190057175
rs190057175 		0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 5 2007 2017
dbSNP: rs28940869
rs28940869 		0.827 0.160 1 46192397 missense variant G/A snv 3.5E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 4 2004 2012
dbSNP: rs138642840
rs138642840 		0.851 0.120 1 46192097 splice donor variant C/A;T snv 6.2E-04
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 3 2001 2013
dbSNP: rs193919336
rs193919336 		0.882 0.160 1 46193873 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 3 2006 2009
dbSNP: rs386834024
rs386834024 		0.851 0.120 1 46189457 splice donor variant C/A;G;T snv 8.0E-05; 8.0E-06
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 3 2004 2017
dbSNP: rs386834019
rs386834019 		0.882 0.120 1 46189870 stop gained C/G;T snv 8.0E-06; 4.0E-06
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 2 2004 2011
dbSNP: rs386834034
rs386834034 		0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 2 2012 2016
dbSNP: rs386834039
rs386834039 		0.851 0.120 1 46193874 stop gained G/A snv 7.0E-06
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 1.000 2 2006 2012
dbSNP: rs1553163206
rs1553163206 		0.925 1 46192386 frameshift variant G/- delins
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 0
dbSNP: rs386834018
rs386834018 		0.882 0.120 1 46189901 stop gained G/A;T snv 8.0E-06
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 0
dbSNP: rs386834035
rs386834035 		0.925 0.120 1 46194843 splice donor variant C/A;T snv 4.0E-06
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.700 0