Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.870 1.000 0 2004 2019
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.770 1.000 0 2005 2019
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.730 1.000 0 2006 2010
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
Hereditary Breast and Ovarian Cancer Syndrome
0.700 1.000 34 1994 2013
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 11 2006 2017
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 1.000 8 1998 2015
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
0.700 0
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP S
0.700 0
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0