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: rs1064794309
rs1064794309
TP53
1 1.000 0.120 17 7674197 inframe deletion ATG/- delins 0.700 0
dbSNP: rs28934873
rs28934873
TP53
3 0.925 0.120 17 7675214 start lost A/G snv 0.700 1.000 18 1990 2017
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: rs1555526470
rs1555526470
TP53
1 1.000 0.120 17 7675992 splice region variant -/C delins 0.700 1.000 2 2007 2010
dbSNP: rs1555525957
rs1555525957
TP53
1 1.000 0.120 17 7675048 splice region variant CATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCAC/- delins 0.700 0
dbSNP: rs786202799
rs786202799
TP53
3 0.925 0.200 17 7675238 splice acceptor variant T/A;C;G snv 4.0E-06 0.700 1.000 4 2010 2015
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: rs1555525367
rs1555525367
TP53
3 0.925 0.200 17 7673838 splice acceptor variant C/A;T snv 0.700 1.000 3 2008 2015
dbSNP: rs587781664
rs587781664
TP53
2 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 3 2010 2015
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: rs397516439
rs397516439
TP53
3 0.925 0.200 17 7673610 splice acceptor variant T/C snv 8.0E-06 0.700 1.000 1 2001 2001
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: rs1555525585
rs1555525585
TP53
2 0.925 0.200 17 7674292 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587781702
rs587781702
TP53
3 0.925 0.200 17 7673609 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs878854073
rs878854073
TP53
2 1.000 0.120 17 7674291 splice acceptor variant C/A;T snv 0.700 0
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2010 2016
dbSNP: rs730882018
rs730882018
TP53
5 0.851 0.320 17 7676153 frameshift variant G/-;GG delins 0.700 1.000 2 1992 2017
dbSNP: rs1057517840
rs1057517840
TP53
3 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 1.000 1 1996 1996
dbSNP: rs1131691004
rs1131691004
TP53
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
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