ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Breast Cancer, Familial ×
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: rs28904921
rs28904921 		0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs756522395
rs756522395 		1.000 0.080 11 108257484 missense variant C/G;T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008