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: 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: rs878854074
rs878854074
TP53
1 1.000 0.120 17 7674210 missense variant G/A;C snv 0.700 1.000 11 1990 2014
dbSNP: rs866380588
rs866380588
TP53
1 1.000 0.120 17 7674957 stop gained G/A snv 0.700 1.000 6 2010 2016
dbSNP: rs1555525703
rs1555525703
TP53
1 1.000 0.120 17 7674857 splice donor variant A/T snv 0.700 1.000 4 2003 2013
dbSNP: rs1567553501
rs1567553501
TP53
1 1.000 0.120 17 7675138 missense variant GC/AA mnv 0.700 1.000 4 2003 2015
dbSNP: rs755394212
rs755394212
TP53
1 1.000 0.120 17 7670649 stop gained G/A;T snv 2.0E-05 0.700 1.000 4 2010 2015
dbSNP: rs1555526470
rs1555526470
TP53
1 1.000 0.120 17 7675992 splice region variant -/C delins 0.700 1.000 2 2007 2010
dbSNP: rs864622115
rs864622115
TP53
1 1.000 0.120 17 7675092 missense variant T/C snv 0.700 1.000 2 2007 2014
dbSNP: rs138556334
rs138556334
GLI2
1 1.000 0.120 2 120968809 missense variant C/T snv 3.6E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1555525040
rs1555525040
TP53
1 1.000 0.120 17 7673691 splice donor variant GCTTACCTCGCTT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1555526462
rs1555526462
TP53
1 1.000 0.120 17 7675973 splice donor variant CAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA/- del 0.700 1.000 1 2010 2010
dbSNP: rs1555526750
rs1555526750
TP53
1 1.000 0.120 17 7676213 frameshift variant TT/- del 0.700 1.000 1 2015 2015
dbSNP: rs1555526795
rs1555526795
TP53
1 1.000 0.120 17 7676257 frameshift variant G/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1567548832
rs1567548832
TP53
1 1.000 0.120 17 7674175 splice donor variant ACCTG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs587780728
rs587780728
TP53
1 1.000 0.120 17 7676224 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs878854072
rs878854072
TP53
1 1.000 0.120 17 7674879 missense variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1057517983
rs1057517983
TP53
1 1.000 0.120 17 7674232 missense variant C/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: rs1555523630
rs1555523630
TP53
1 1.000 0.120 17 7668202 intron variant -/C delins 0.700 0
dbSNP: rs1555524949
rs1555524949
TP53
1 1.000 0.120 17 7673535 frameshift variant CTGA/- del 0.700 0