BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: rs28897759
rs28897759
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 1 2014 2014
dbSNP: rs45580035
rs45580035
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 25 1997 2014
dbSNP: rs28897743
rs28897743
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 6 2002 2013
dbSNP: rs41293511
rs41293511
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 5 2004 2014
dbSNP: rs4942486
rs4942486
13 32379251 intron variant T/C snv 0.52
Low density lipoprotein cholesterol measurement
0.800 1.000 3 2013 2018
dbSNP: rs80358979
rs80358979
1.000 0.120 13 32356521 missense variant T/C snv
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs80359014
rs80359014
0.763 0.320 13 32362596 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.750 0.857 7 2014 2018
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.750 0.800 5 2014 2018
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.740 0.875 8 2013 2017
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.740 0.800 5 2013 2016
dbSNP: rs80359065
rs80359065
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 3 2003 2017
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.720 1.000 3 2015 2019
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.720 1.000 3 2016 2018
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.720 1.000 3 2014 2018
dbSNP: rs80358755
rs80358755
0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 21 1997 2016
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.710 1.000 2 2016 2016
dbSNP: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.710 1.000 2 2017 2018
dbSNP: rs28897743
rs28897743
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2020 2020
dbSNP: rs80358807
rs80358807
0.763 0.280 13 32340146 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2017 2017
dbSNP: rs80358814
rs80358814
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.710 1.000 1 2013 2013
dbSNP: rs80359078
rs80359078
0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05
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: rs80359182
rs80359182
0.925 0.080 13 32319100 missense variant T/C;G 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: rs80359198
rs80359198
0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 1996 1996
dbSNP: rs28897756
rs28897756
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 41 1997 2017