PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Breast Carcinoma ×
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: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 5 2010 2016
dbSNP: rs515726123
rs515726123 		0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 4 2010 2018
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs769240800
rs769240800 		0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs16940342
rs16940342 		0.925 0.080 16 23633265 intron variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2018
dbSNP: rs180177111
rs180177111 		0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2013
dbSNP: rs180177143
rs180177143 		0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2019
dbSNP: rs249935
rs249935 		0.925 0.080 16 23613903 intron variant T/C snv 0.13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2013
dbSNP: rs13330119
rs13330119 		0.925 0.080 16 23618750 intron variant C/T snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141047069
rs141047069 		0.925 0.080 16 23638074 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs180177110
rs180177110 		0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs515726124
rs515726124 		0.925 0.080 16 23636036 frameshift variant CT/- delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015