rs587782471, CHEK2

N. diseases: 4
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0