Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201675
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1996 2017
dbSNP: rs786201675
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 7 1998 2016
dbSNP: rs786201675
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs786201675
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.700 0