rs786201675, ATM

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 8 1996 2017
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 7 1998 2016
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 0
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 0