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: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
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: rs1561873941
rs1561873941
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
9 0.925 0.200 6 43044835 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs121913528
rs121913528
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1567552713
rs1567552713
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs1567558314
rs1567558314
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs1567564042
rs1567564042
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
dbSNP: rs1569301036
rs1569301036
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs557849165
rs557849165
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs672601334
rs672601334
18 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0