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
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: rs180177110
rs180177110
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
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: rs587776416
rs587776416
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
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 2014 2016
dbSNP: rs118203998
rs118203998
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
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: rs180177126
rs180177126
0.925 0.200 16 23623044 frameshift variant TT/- delins
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 2011 2016
dbSNP: rs180177083
rs180177083
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06
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 3 2011 2013
dbSNP: rs180177100
rs180177100
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
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 3 2011 2016
dbSNP: rs180177135
rs180177135
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
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 3 2007 2017
dbSNP: rs767633741
rs767633741
0.925 0.200 16 23626377 frameshift variant G/-;GG delins
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 2 2013 2015
dbSNP: rs375699023
rs375699023
0.925 0.200 16 23635504 stop gained G/A;T snv 4.0E-05
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 1 2016 2016
dbSNP: rs587782337
rs587782337
1.000 0.200 16 23607925 frameshift variant GGTT/NNNNNNNN;TCATTAAC delins
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 1 2014 2014
dbSNP: rs1555460445
rs1555460445
0.925 0.200 16 23629936 stop gained G/A snv
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 0
dbSNP: rs1555461602
rs1555461602
1.000 0.200 16 23635714 frameshift variant GTCG/- delins
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 0
dbSNP: rs1555461618
rs1555461618
0.925 0.200 16 23635743 frameshift variant -/TA delins
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 0
dbSNP: rs1555461870
rs1555461870
0.925 0.200 16 23636317 frameshift variant AT/- delins
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 0
dbSNP: rs786203714
rs786203714
0.925 0.200 16 23635095 stop gained A/T snv
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 0
dbSNP: rs786203821
rs786203821
0.925 0.200 16 23635606 stop gained G/A snv 1.4E-05
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 0