Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180177132
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 2007 2017
dbSNP: rs515726123
rs515726123
PALB2
0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 2010 2017
dbSNP: rs118203998
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2007 2017
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2010 2017
dbSNP: rs180177092
rs180177092
PALB2
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 2007 2016
dbSNP: rs587776527
rs587776527
PALB2
0.925 0.080 16 23607958 stop gained G/A;C snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2009 2017
dbSNP: rs180177115
rs180177115
PALB2
1.000 0.080 16 23629231 synonymous variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2010 2017
dbSNP: rs180177143
rs180177143
PALB2
0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2009 2017
dbSNP: rs515726117
rs515726117
PALB2
0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2013 2017
dbSNP: rs515726126
rs515726126
PALB2
1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2012 2017
dbSNP: rs180177102
rs180177102
PALB2
1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2007 2015
dbSNP: rs180177110
rs180177110
PALB2
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2007 2017
dbSNP: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2014 2017
dbSNP: rs876659463
rs876659463
PALB2
1.000 0.120 16 23621357 splice region variant C/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2007 2015
dbSNP: rs180177091
rs180177091
PALB2
1.000 0.080 16 23635795 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2015
dbSNP: rs180177099
rs180177099
PALB2
1.000 0.080 16 23635489 frameshift variant CT/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2007 2013
dbSNP: rs515726099
rs515726099
PALB2
1.000 0.080 16 23623131 splice acceptor variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2011 2016
dbSNP: rs587776428
rs587776428
PALB2
1.000 0.080 16 23603512 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2015
dbSNP: rs180177083
rs180177083
PALB2
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2011 2015
dbSNP: rs180177103
rs180177103
PALB2
1.000 0.080 16 23634913 stop gained C/A;T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2011 2016
dbSNP: rs180177126
rs180177126
PALB2
0.925 0.200 16 23623044 frameshift variant TT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2017
dbSNP: rs180177133
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2015
dbSNP: rs180177135
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2016
dbSNP: rs587776426
rs587776426
PALB2
1.000 0.080 16 23603563 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2014 2017
dbSNP: rs118203997
rs118203997
PALB2
1.000 0.120 16 23634893 stop gained A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2015