BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: rs11571653
rs11571653 		0.925 0.080 13 32336705 missense variant A/G snv 2.3E-04 1.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2003 2017
dbSNP: rs4987117
rs4987117 		0.925 0.080 13 32340099 missense variant C/T snv 1.8E-02 1.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2019
dbSNP: rs80358527
rs80358527 		0.925 0.080 13 32316486 missense variant C/A;G;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2006 2009
dbSNP: rs80358978
rs80358978 		0.925 0.080 13 32356514 missense variant G/A snv 1.6E-04 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2017
dbSNP: rs876659602
rs876659602 		0.882 0.080 13 32337468 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2016
dbSNP: rs1057520611
rs1057520611 		0.925 0.080 13 32356462 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1334767632
rs1334767632 		0.925 0.080 13 32332437 missense variant T/C snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs15869
rs15869 		0.925 0.080 13 32398875 3 prime UTR variant A/C snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944 		0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1799955
rs1799955 		0.925 0.080 13 32355095 synonymous variant A/G;T snv 0.23; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1801439
rs1801439 		0.925 0.080 13 32332843 synonymous variant A/G snv 5.2E-02 3.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs206340
rs206340 		0.925 0.080 13 32391173 intron variant G/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs397507293
rs397507293 		0.925 0.080 13 32337113 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs41293475
rs41293475 		0.882 0.080 13 32332629 missense variant C/G;T snv 7.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4942440
rs4942440 		0.925 0.080 13 32344830 intron variant G/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs786201704
rs786201704 		0.925 0.080 13 32338618 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs80358462
rs80358462 		0.925 0.080 13 32333271 missense variant C/T snv 4.1E-06; 4.1E-06 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80358572
rs80358572 		0.925 0.080 13 32337617 missense variant C/G;T snv 4.3E-06; 4.3E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs80358621
rs80358621 		0.925 0.080 13 32325138 missense variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs80358702
rs80358702 		0.882 0.080 13 32326150 missense variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs80358732
rs80358732 		0.925 0.080 13 32339451 missense variant A/G snv 2.2E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80358755
rs80358755 		0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs80358833
rs80358833 		0.925 0.080 13 32340341 missense variant G/A;T snv 4.8E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs80359165
rs80359165 		0.925 0.080 13 32379900 missense variant A/C;G;T snv 4.8E-05; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80359182
rs80359182 		0.925 0.080 13 32319100 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019