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: rs1555103971
rs1555103971
1.000 12 13571888 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.800 1.000 7 2010 2017
dbSNP: rs387906636
rs387906636
1.000 12 13571931 missense variant G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.800 1.000 7 2010 2017
dbSNP: rs397514555
rs397514555
1.000 12 13615626 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.800 1.000 7 2010 2017
dbSNP: rs397514556
rs397514556
1.000 12 13611847 missense variant G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.800 1.000 7 2010 2017
dbSNP: rs527236034
rs527236034
1.000 12 13616545 missense variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.800 1.000 7 2010 2017
dbSNP: rs879253931
rs879253931
0.925 12 13567084 stop gained G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 1.000 1 2016 2016
dbSNP: rs1057518700
rs1057518700
1.000 12 13608792 stop gained C/G;T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs1057519611
rs1057519611
1.000 12 13865797 splice donor variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs1057519612
rs1057519612
1.000 12 13567265 splice acceptor variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs1060499526
rs1060499526
1.000 12 13753523 frameshift variant GT/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs1555111511
rs1555111511
1.000 12 13611773 inframe deletion AAGACA/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs1565455778
rs1565455778
0.925 12 13567063 frameshift variant A/- del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs398122823
rs398122823
1.000 12 13866109 frameshift variant -/G delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs398122824
rs398122824
1.000 12 13570019 splice acceptor variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs398122825
rs398122825
1.000 12 13611828 stop gained C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs672601378
rs672601378
0.882 0.040 12 13615149 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs796052571
rs796052571
0.851 0.040 12 13608755 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs797044849
rs797044849
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs869312868
rs869312868
0.925 12 13571910 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs876661055
rs876661055
1.000 12 13569937 missense variant A/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0
dbSNP: rs886041095
rs886041095
0.827 0.160 12 13571930 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
0.700 0