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: rs149633775
rs149633775
TP53
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs1555525012
rs1555525012
TP53
3 0.882 0.200 17 7673603 missense variant G/A snv 0.700 1.000 11 1990 2014
dbSNP: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs28934577
rs28934577
TP53
2 1.000 0.120 17 7674193 missense variant A/C;G;T snv 0.700 1.000 11 1990 2014
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 11 1990 2014
dbSNP: rs534447939
rs534447939
TP53
1 1.000 0.120 17 7676124 missense variant G/A;C snv 2.0E-05 7.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs55863639
rs55863639
TP53
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 11 1992 2016
dbSNP: rs587782664
rs587782664
TP53
15 0.742 0.320 17 7674252 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs730882029
rs730882029
TP53
4 0.882 0.200 17 7670685 stop gained G/A snv 0.700 1.000 11 2006 2016
dbSNP: rs786202752
rs786202752
TP53
2 1.000 0.120 17 7675148 missense variant G/C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs786204041
rs786204041
TP53
2 1.000 0.120 17 7674942 missense variant C/A;G;T snv 0.700 1.000 11 1990 2014
dbSNP: rs876659802
rs876659802
TP53
16 0.732 0.440 17 7673787 missense variant G/A;C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs878854074
rs878854074
TP53
1 1.000 0.120 17 7674210 missense variant G/A;C snv 0.700 1.000 11 1990 2014
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 10 1994 2012
dbSNP: rs587781525
rs587781525
TP53
22 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 10 1999 2015
dbSNP: rs1057519989
rs1057519989
TP53
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 9 2003 2016
dbSNP: rs112431538
rs112431538
TP53
4 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 9 1997 2015
dbSNP: rs371524413
rs371524413
TP53
3 0.925 0.200 17 7675145 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 1.000 9 1990 1999
dbSNP: rs397516435
rs397516435
TP53
6 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.700 1.000 9 1994 2016
dbSNP: rs786203071
rs786203071
TP53
9 0.776 0.240 17 7675181 missense variant T/A;G snv 0.700 1.000 9 1990 1999
dbSNP: rs864622237
rs864622237
TP53
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 9 1994 2013
dbSNP: rs876660821
rs876660821
TP53
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 9 2003 2018
dbSNP: rs1064795203
rs1064795203
TP53
2 1.000 0.120 17 7675080 missense variant G/C;T snv 0.700 1.000 6 2003 2018
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 6 1999 2017
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 6 2003 2016