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: rs118203998
rs118203998 		0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 15 2007 2016
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: 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: 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: rs180177092
rs180177092 		0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2007 2015
dbSNP: rs879254154
rs879254154 		0.851 0.160 16 23621428 missense variant A/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs180177110
rs180177110 		0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2007 2019
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: 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: 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: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2016 2016
dbSNP: rs587776419
rs587776419 		0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs757369748
rs757369748 		0.882 0.200 16 23638072 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 0
dbSNP: rs180177083
rs180177083 		0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2011 2015
dbSNP: rs180177111
rs180177111 		0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 5 2007 2013
dbSNP: rs118203999
rs118203999 		0.925 0.200 16 23623003 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2011
dbSNP: rs141047069
rs141047069 		0.925 0.080 16 23638074 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2007 2017
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: rs16940342
rs16940342 		0.925 0.080 16 23633265 intron variant A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2018
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: 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: 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: 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: 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