Source: CLINVAR ×
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: rs1057517840
rs1057517840
TP53
3 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 1.000 1 1996 1996
dbSNP: rs1057519981
rs1057519981
TP53
20 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.800 1.000 1 1990 2014
dbSNP: rs1057519986
rs1057519986
TP53
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 2 2003 2003
dbSNP: rs1057519989
rs1057519989
TP53
15 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 9 2003 2016
dbSNP: rs1057519992
rs1057519992
TP53
13 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 4 2002 2018
dbSNP: rs1057520007
rs1057520007
TP53
17 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 5 2000 2018
dbSNP: rs1057523347
rs1057523347
TP53
1 0.925 0.160 17 7673789 stop gained A/G;T snv 0.700 0
dbSNP: rs1060501194
rs1060501194
TP53
1 1.000 0.120 17 7673830 frameshift variant G/- del 0.700 0
dbSNP: rs1060501197
rs1060501197
TP53
1 1.000 0.120 17 7674247 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501207
rs1060501207
TP53
1 1.000 0.120 17 7673839 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060501212
rs1060501212
TP53
1 1.000 0.120 17 7674973 splice acceptor variant TAA/- del 0.700 0
dbSNP: rs1064792930
rs1064792930
TP53
1 1.000 0.120 17 7675152 frameshift variant CGGGCGGGGGTGT/- del 0.700 0
dbSNP: rs1064794309
rs1064794309
TP53
1 1.000 0.120 17 7674197 inframe deletion ATG/- delins 0.700 0
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: rs112431538
rs112431538
TP53
2 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 9 1997 2015
dbSNP: rs1131691004
rs1131691004
TP53
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
dbSNP: rs1131691016
rs1131691016
TP53
3 0.925 0.240 17 7673699 splice donor variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1131691026
rs1131691026
TP53
2 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 5 2010 2016
dbSNP: rs1131691033
rs1131691033
TP53
2 1.000 0.120 17 7673534 splice donor variant C/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1131691039
rs1131691039
TP53
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 13 1991 2015
dbSNP: rs11540654
rs11540654
TP53
3 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs11575996
rs11575996
TP53
2 1.000 0.120 17 7673535 missense variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs11575997
rs11575997
TP53
2 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 1.000 3 2000 2016
dbSNP: rs121908707
rs121908707
CHEK2
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 0