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: 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: 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: 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: 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: 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: rs180177110
rs180177110 		0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2007 2017
dbSNP: rs876659463
rs876659463 		1.000 0.120 16 23621357 splice region variant C/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2007 2015
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: rs180177091
rs180177091 		1.000 0.080 16 23635795 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2009 2015
dbSNP: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 6 2010 2016
dbSNP: rs515726099
rs515726099 		1.000 0.080 16 23623131 splice acceptor variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2011 2016
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: rs180177083
rs180177083 		0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2011 2015
dbSNP: rs180177103
rs180177103 		1.000 0.080 16 23634913 stop gained C/A;T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2011 2016
dbSNP: rs180177110
rs180177110 		0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2017
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: 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: 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: rs118203997
rs118203997 		1.000 0.120 16 23634893 stop gained A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2007 2015
dbSNP: rs118203998
rs118203998 		0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 4 2007 2015
dbSNP: rs118203999
rs118203999 		0.925 0.200 16 23623003 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2007 2014
dbSNP: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2011 2016