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: rs397516434
rs397516434
TP53
3 1.000 0.120 17 7670669 missense variant G/A;T snv 0.700 1.000 2 2016 2016
dbSNP: rs397516438
rs397516438
TP53
2 1.000 0.120 17 7676398 splice acceptor variant GGAA/ACGTTCTT delins 0.700 1.000 2 1996 1997
dbSNP: rs587782272
rs587782272
TP53
2 1.000 0.120 17 7670716 splice acceptor variant C/G;T snv 0.700 1.000 2 2000 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: rs1131691004
rs1131691004
TP53
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
dbSNP: rs1131691033
rs1131691033
TP53
2 1.000 0.120 17 7673534 splice donor variant C/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1196220479
rs1196220479
YAP1
4 0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1210653597
rs1210653597
CDKN2A
2 0.925 0.120 9 21968756 missense variant T/C snv 0.010 1.000 1 2010 2010
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: rs730882028
rs730882028
TP53
3 1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751857027
rs751857027
QTRT1
2 0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs766786605
rs766786605
TP53
2 1.000 0.120 17 7670643 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs786202601
rs786202601
CHEK2
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.700 1.000 1 2016 2016
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