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: rs139455627
rs139455627
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs768663992
rs768663992
5 0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
5 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
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: rs1131691668
rs1131691668
3 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0
dbSNP: rs119103263
rs119103263
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
dbSNP: rs121912854
rs121912854
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121912855
rs121912855
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 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: rs1553544133
rs1553544133
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs267606670
rs267606670
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs281875196
rs281875196
9 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
dbSNP: rs765243124
rs765243124
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs875989805
rs875989805
NHS
4 0.925 0.120 X 17687870 stop gained C/T snv 0.700 0
dbSNP: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0