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: 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: rs1488792693
rs1488792693 		0.925 0.080 16 23636036 frameshift variant CT/- delins
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: rs515726124
rs515726124 		0.925 0.080 16 23636036 frameshift variant CT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: rs760094988
rs760094988 		0.925 0.080 16 23630235 stop gained G/C;T snv 4.0E-06
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: 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: 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: 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: 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
dbSNP: rs778345761
rs778345761 		0.925 0.080 16 23614091 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2013
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: rs1567206804
rs1567206804 		1.000 0.080 16 23607911 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 8 2006 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: rs587776428
rs587776428 		1.000 0.080 16 23603512 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 8 2009 2016
dbSNP: rs180177127
rs180177127 		1.000 0.080 16 23622982 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2007 2016
dbSNP: rs587776426
rs587776426 		1.000 0.080 16 23603563 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 7 2009 2016
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: rs773829275
rs773829275 		1.000 0.080 16 23603526 stop gained G/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 6 2007 2015
dbSNP: rs1555457841
rs1555457841 		1.000 0.080 16 23603497 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 5 2007 2016
dbSNP: rs1567204928
rs1567204928 		1.000 0.080 16 23603476 frameshift variant -/AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1567204932
rs1567204932 		1.000 0.080 16 23603477 frameshift variant AATA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2015
dbSNP: rs180177136
rs180177136 		1.000 0.080 16 23607860 splice region variant T/C;G 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 5 2007 2016
dbSNP: rs515726104
rs515726104 		1.000 0.080 16 23621427 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2012 2016