ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312756
rs869312756
0.925 0.320 11 108307985 splice donor variant G/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1801516
rs1801516
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015