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: rs202160208
rs202160208
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.800 1.000 6 2013 2017
dbSNP: rs397509425
rs397509425
0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.800 1.000 1 2013 2013
dbSNP: rs397509426
rs397509426
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.800 1.000 1 2013 2013
dbSNP: rs142336618
rs142336618
0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 5 2013 2015
dbSNP: rs199922550
rs199922550
0.882 3 49721847 missense variant C/T snv 6.0E-05 4.9E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 3 2013 2016
dbSNP: rs397509422
rs397509422
0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 3 2013 2015
dbSNP: rs761714818
rs761714818
0.882 3 49722343 missense variant A/G snv 6.4E-05 4.2E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 3 2014 2015
dbSNP: rs145564018
rs145564018
0.882 3 49722971 splice donor variant C/T snv 1.4E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 2 2013 2015
dbSNP: rs142908436
rs142908436
0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 1 2015 2015
dbSNP: rs771861177
rs771861177
0.882 3 49721765 missense variant C/T snv 3.7E-05 1.4E-05
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 1.000 1 2017 2017
dbSNP: rs1553691918
rs1553691918
0.882 3 49722698 frameshift variant GT/- delins
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 0
dbSNP: rs1553691975
rs1553691975
0.882 3 49723007 frameshift variant -/CT delins
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 0
dbSNP: rs763971677
rs763971677
0.882 3 49722126 stop gained G/A snv 4.0E-06
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
0.700 0