rs587779349, BRCA2

N. diseases: 8
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.
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
Ectopic kidney
CUI: C0238207
Disease: Ectopic kidney
3 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
Glial tumor of brain (disorder)
CUI: C0349661
Disease: Glial tumor of brain (disorder)
1 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
9 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 0