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: rs587780021
rs587780021
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-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 7 2012 2016
dbSNP: rs587780024
rs587780024
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC 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 2010 2012
dbSNP: rs587781948
rs587781948
0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-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 4 2016 2017
dbSNP: rs796666047
rs796666047
0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-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 1 2017 2017
dbSNP: rs879254139
rs879254139
0.925 0.200 2 214797118 splice acceptor variant C/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: rs977584514
rs977584514
1.000 0.200 2 214728813 missense variant A/G 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 0.010 1.000 1 2014 2014