rs587776650, NBN

N. diseases: 11
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.
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
144 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.710 1.000 16 1998 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 1.000 15 2000 2017
Abnormality of chromosome stability
CUI: C4551705
Disease: Abnormality of chromosome stability
1 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Lissencephaly
CUI: C0266463
Disease: Lissencephaly
9 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0