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: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519895
rs1057519895
17 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519938
rs1057519938
10 0.776 0.160 3 179203764 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913284
rs121913284
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28934874
rs28934874
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1554728034
rs1554728034
1 1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins 0.700 0
dbSNP: rs1554728658
rs1554728658
1 1.000 0.040 9 136509877 missense variant C/T snv 0.700 0
dbSNP: rs1555155110
rs1555155110
1 1.000 0.040 12 45851112 stop gained C/T snv 0.700 0
dbSNP: rs1555913337
rs1555913337
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0
dbSNP: rs1555919960
rs1555919960
1 1.000 0.040 X 40074947 frameshift variant -/GT ins 0.700 0
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
4 0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009