PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
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: rs420259
rs420259
0.925 0.040 16 23622705 intron variant A/C;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.810 1.000 3 2007 2011
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: 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: 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: 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: 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: 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: 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: 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: rs587782462
rs587782462
1.000 0.080 16 23641140 synonymous variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2019 2019
dbSNP: rs180177132
rs180177132
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 18 2007 2017
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: rs515726123
rs515726123
0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 2010 2017
dbSNP: rs118203998
rs118203998
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 2007 2017
dbSNP: rs180177100
rs180177100
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2010 2017
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 2007 2016
dbSNP: rs587776527
rs587776527
0.925 0.080 16 23607958 stop gained G/A;C snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 2009 2017
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: rs180177115
rs180177115
1.000 0.080 16 23629231 synonymous variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2010 2017
dbSNP: rs180177143
rs180177143
0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2009 2017
dbSNP: rs515726117
rs515726117
0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2013 2017
dbSNP: rs515726126
rs515726126
1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2012 2017
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