Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140047318
rs140047318
3 0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1567499068
rs1567499068
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.710 1.000 1 1998 1998
dbSNP: rs77096466
rs77096466
1 1.000 0.080 20 58905474 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1014959895
rs1014959895
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057518907
rs1057518907
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518972
rs1057518972
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1251713297
rs1251713297
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1553154130
rs1553154130
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555154946
rs1555154946
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs1555528356
rs1555528356
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
dbSNP: rs1556165162
rs1556165162
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
dbSNP: rs1565311145
rs1565311145
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs1567690011
rs1567690011
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs387906836
rs387906836
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs398123425
rs398123425
9 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
dbSNP: rs587776917
rs587776917
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs587784000
rs587784000
5 0.882 0.120 5 37044480 missense variant G/C;T snv 0.700 0