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: rs1554150607
rs1554150607
0.925 0.160 5 88823786 start lost C/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 1.000 4 2009 2013
dbSNP: rs797045053
rs797045053
1.000 5 88804788 missense variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308
1.000 5 88823780 missense variant T/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 1.000 1 2016 2016
dbSNP: rs1202957297
rs1202957297
1.000 5 88823745 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs1554102556
rs1554102556
1.000 5 88731903 splice acceptor variant T/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs1554110298
rs1554110298
1.000 5 88749081 frameshift variant CCTGCACCAGACG/GTGGAGAC delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs1561697465
rs1561697465
1.000 5 88731758 frameshift variant -/T delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs267607233
rs267607233
1.000 5 88731856 stop gained G/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs397514655
rs397514655
1.000 5 88804743 missense variant A/G;T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs397514656
rs397514656
1.000 5 88804776 missense variant C/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs545185248
rs545185248
1.000 5 88823787 start lost A/G;T snv 4.0E-06
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs587783747
rs587783747
1.000 5 88751881 stop gained G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs587783749
rs587783749
1.000 5 88730212 frameshift variant A/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs730882192
rs730882192
1.000 5 88751988 frameshift variant T/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0
dbSNP: rs869312698
rs869312698
0.925 0.160 5 88804785 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 0