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: rs985033810
rs985033810
TP53
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.800 1.000 8 2007 2016
dbSNP: rs886041861
rs886041861
TP53
1 1.000 0.120 17 7676090 frameshift variant AGGAGGGGGCTGGTGCAGGGGCC/- delins 0.700 0
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.800 1.000 25 1990 2017
dbSNP: rs879253911
rs879253911
TP53
4 0.925 0.200 17 7675074 stop gained C/A;T snv 0.800 1.000 19 1990 2018
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: rs878854073
rs878854073
TP53
2 1.000 0.120 17 7674291 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs878854072
rs878854072
TP53
1 1.000 0.120 17 7674879 missense variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs878854071
rs878854071
TP53
2 1.000 0.120 17 7674869 frameshift variant T/- del 0.700 0
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2010 2016
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: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.800 1.000 20 1990 2018
dbSNP: rs876660548
rs876660548
TP53
3 0.925 0.200 17 7676096 stop gained C/T snv 0.700 0
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: rs876659384
rs876659384
TP53
7 0.851 0.240 17 7673552 stop gained C/A snv 0.710 1.000 1 2004 2004
dbSNP: rs876658483
rs876658483
TP53
3 0.925 0.200 17 7676211 stop gained C/T snv 0.700 0
dbSNP: rs876658468
rs876658468
TP53
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.700 1.000 3 2003 2011
dbSNP: rs868137297
rs868137297
TP53
3 0.925 0.200 17 7675237 splice acceptor variant C/T snv 7.0E-06 0.700 1.000 4 2010 2019
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs866380588
rs866380588
TP53
1 1.000 0.120 17 7674957 stop gained G/A snv 0.700 1.000 6 2010 2016
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: rs864622115
rs864622115
TP53
1 1.000 0.120 17 7675092 missense variant T/C snv 0.700 1.000 2 2007 2014
dbSNP: rs863224500
rs863224500
TP53
1 1.000 0.120 17 7673555 stop gained C/A;T snv 0.700 0
dbSNP: rs863224499
rs863224499
TP53
3 0.925 0.200 17 7674858 splice donor variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs863224451
rs863224451
TP53
20 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.800 1.000 14 1990 2011
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