rs555607708, CHEK2

N. diseases: 33
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Type 1 Papillary Renal Cell Carcinoma
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
14 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 9 2003 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 21 1999 2017
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 6 1999 2017
leiomyosarcoma
CUI: C0023269
Disease: leiomyosarcoma
5 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 1 2017 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 1 2017 2017