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: rs1800057
rs1800057
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.030 0.667 3 2004 2009
dbSNP: rs1801516
rs1801516
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs758081262
rs758081262
0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs768362387
rs768362387
0.851 0.360 11 108253846 stop gained C/A snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015