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.
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
1 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Fibrofolliculoma
CUI: C0346011
Disease: Fibrofolliculoma
1 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Inflammation of large intestine
CUI: C0578878
Disease: Inflammation of large intestine
1 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
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
increased risk of pancreatic cancer
CUI: C1842408
Disease: increased risk of pancreatic cancer
6 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
PROSTATE CANCER, SUSCEPTIBILITY TO
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
6 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
7 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
9 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Hematochezia
CUI: C0018932
Disease: Hematochezia
12 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
Colitis
CUI: C0009319
Disease: Colitis
15 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 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
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
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
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
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
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0