rs137853007, CHEK2

N. diseases: 9
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.
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.800 1.000 1 2001 2001
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.710 1.000 4 2001 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 1.000 15 2001 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 1.000 10 2001 2017
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2001 2001