PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2009 2014
dbSNP: rs515726111
rs515726111 		1.000 0.080 16 23608013 splice acceptor variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2014
dbSNP: rs515726118
rs515726118 		1.000 0.080 16 23641109 splice donor variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2014
dbSNP: rs587776416
rs587776416 		0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2014 2014
dbSNP: rs587776417
rs587776417 		0.925 0.080 16 23629276 splice acceptor variant C/A;G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2014
dbSNP: rs587780210
rs587780210 		1.000 0.080 16 23630034 frameshift variant G/- delins 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2015 2016
dbSNP: rs730881865
rs730881865 		1.000 0.080 16 23630230 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2013 2016
dbSNP: rs747148023
rs747148023 		1.000 0.080 16 23629742 frameshift variant AG/- delins 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2014 2016
dbSNP: rs1555460533
rs1555460533 		1.000 0.080 16 23630170 stop gained T/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1555461294
rs1555461294 		1.000 0.080 16 23635121 frameshift variant -/G delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2018
dbSNP: rs180177091
rs180177091 		1.000 0.080 16 23635795 stop gained G/A snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2009 2015
dbSNP: rs180177099
rs180177099 		1.000 0.080 16 23635489 frameshift variant CT/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2009 2017
dbSNP: rs180177100
rs180177100 		0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2011
dbSNP: rs180177102
rs180177102 		1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2007 2008
dbSNP: rs180177103
rs180177103 		1.000 0.080 16 23634913 stop gained C/A;T snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2014
dbSNP: rs180177126
rs180177126 		0.925 0.200 16 23623044 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2016
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2007 2015
dbSNP: rs180177142
rs180177142 		0.925 0.080 16 23638106 frameshift variant C/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2014
dbSNP: rs515726060
rs515726060 		0.925 0.160 16 23635493 frameshift variant TTTG/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2016
dbSNP: rs515726071
rs515726071 		1.000 0.080 16 23635067 frameshift variant G/- delins 1.2E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2012 2014
dbSNP: rs587776406
rs587776406 		1.000 0.080 16 23637905 frameshift variant T/- del 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2014 2015
dbSNP: rs587776407
rs587776407 		1.000 0.080 16 23636095 stop gained G/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2014 2017
dbSNP: rs587778587
rs587778587 		1.000 0.080 16 23629645 stop gained C/A;G;T snv 1.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2015
dbSNP: rs587782005
rs587782005 		1.000 0.080 16 23636122 stop gained T/A snv 8.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2017
dbSNP: rs587782081
rs587782081 		1.000 0.080 16 23635947 frameshift variant A/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017