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: rs1557045296
rs1557045296
4 1.000 X 153693971 missense variant C/T snv 0.700 0
dbSNP: rs1057519334
rs1057519334
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
dbSNP: rs1561964103
rs1561964103
7 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
dbSNP: rs1135401744
rs1135401744
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs793888541
rs793888541
7 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553525325
rs1553525325
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1555380716
rs1555380716
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1557570794
rs1557570794
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs1558373252
rs1558373252
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs886039909
rs886039909
6 0.882 0.120 1 21864095 splice region variant C/T snv 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1554199368
rs1554199368
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs397507539
rs397507539
8 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs397507540
rs397507540
8 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1555350397
rs1555350397
9 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1554691658
rs1554691658
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs1556955128
rs1556955128
3 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
dbSNP: rs1567941252
rs1567941252
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0