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: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1334099693
rs1334099693
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1425998598
rs1425998598
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1554297905
rs1554297905
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1559155954
rs1559155954
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs786200952
rs786200952
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1553544133
rs1553544133
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554121443
rs1554121443
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555038111
rs1555038111
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1555174708
rs1555174708
4 0.925 12 48916993 frameshift variant A/- del 0.700 0
dbSNP: rs1555380716
rs1555380716
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs1556009247
rs1556009247
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1560092224
rs1560092224
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1561964103
rs1561964103
7 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0