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: rs249954
rs249954 		0.925 0.080 16 23629146 intron variant G/A snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2016
dbSNP: rs13330119
rs13330119 		0.925 0.080 16 23618750 intron variant C/T snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs249935
rs249935 		0.925 0.080 16 23613903 intron variant T/C snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2018
dbSNP: rs447529
rs447529 		0.925 0.080 16 23622102 intron variant C/G snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2018
dbSNP: rs8053188
rs8053188 		0.925 0.080 16 23641204 5 prime UTR variant C/T snv 4.0E-02 5.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs57605939
rs57605939 		0.925 0.080 16 23635917 missense variant G/A snv 4.8E-03 2.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs139555085
rs139555085 		1.000 0.080 16 23636146 missense variant C/T snv 3.0E-04 1.6E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
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: rs180177143
rs180177143 		0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2013 2019
dbSNP: rs995629797
rs995629797 		1.000 0.080 16 23626254 stop gained A/T snv 8.0E-06 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730881879
rs730881879 		1.000 0.080 16 23636336 splice acceptor variant T/A;C snv 4.5E-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 1 2016 2016
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: 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: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 10 2010 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: 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: 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: 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: rs515726067
rs515726067 		1.000 0.080 16 23635229 frameshift variant C/- delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2010 2016
dbSNP: rs515726123
rs515726123 		0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2010 2018
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: rs786203821
rs786203821 		0.925 0.200 16 23635606 stop gained G/A snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
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: rs515726126
rs515726126 		1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 2012 2017
dbSNP: rs180177084
rs180177084 		1.000 0.080 16 23636317 frameshift variant A/- del 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0