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: rs786202760
rs786202760
0.925 0.200 17 61776557 stop gained C/A;G;T snv 4.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2005 2010
dbSNP: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 < 0.001 1 2016 2016
dbSNP: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 18 2005 2018
dbSNP: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 12 2005 2016
dbSNP: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2005 2015
dbSNP: rs149364097
rs149364097
0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2005 2016
dbSNP: rs137852985
rs137852985
1.000 0.080 17 61808488 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2014
dbSNP: rs752309409
rs752309409
17 61808634 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2010 2016
dbSNP: rs786203717
rs786203717
0.925 0.240 17 61684051 frameshift variant CTTT/- delins 1.6E-05 2.8E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 7 2008 2018
dbSNP: rs574552037
rs574552037
1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-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 6 2005 2017
dbSNP: rs587778134
rs587778134
0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2011 2016
dbSNP: rs587781321
rs587781321
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2014 2016
dbSNP: rs730881649
rs730881649
0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2005 2016
dbSNP: rs756853672
rs756853672
0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2005 2016
dbSNP: rs756853672
rs756853672
0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2005 2016
dbSNP: rs149364097
rs149364097
0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs587780240
rs587780240
1.000 0.120 17 61715948 splice donor variant -/A delins 1.6E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2004 2016
dbSNP: rs587780833
rs587780833
0.925 0.200 17 61847100 splice donor variant C/T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs587780833
rs587780833
0.925 0.200 17 61847100 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2005 2016
dbSNP: rs587781321
rs587781321
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 5 2014 2016
dbSNP: rs587781321
rs587781321
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-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 5 2014 2018
dbSNP: rs587782047
rs587782047
0.925 0.200 17 61861446 splice donor variant C/A;T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs730881649
rs730881649
0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 5 2005 2016
dbSNP: rs775537066
rs775537066
0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2018
dbSNP: rs1295703239
rs1295703239
0.925 0.200 17 61685952 frameshift variant AGAT/-;AGATAGAT delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2008 2011