Source: ALL
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: rs193920774
rs193920774
TP53
22 0.695 0.440 17 7673823 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs199816436
rs199816436
TRPS1
1 1.000 0.080 8 115565487 intron variant TTTTTTT/-;T;TT;TTTTTT;TTTTTTTT delins 2.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs57994353
rs57994353
SEC16A
2 1.000 0.080 9 136462535 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
TP53
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: rs587780070
rs587780070
TP53
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587781525
rs587781525
TP53
22 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
TP53
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs730882008
rs730882008
TP53
23 0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730882025
rs730882025
TP53
21 0.724 0.360 17 7674885 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs730882026
rs730882026
TP53
15 0.742 0.440 17 7674256 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs74899442
rs74899442 		1 1.000 0.080 11 116019561 intergenic variant T/C snv 3.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs754626
rs754626
SRC
2 0.925 0.080 20 37388937 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs778241955
rs778241955
TSPAN8 ; LGR5
1 1.000 0.080 12 71440178 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016