ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Islet Cell Tumor ×
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: rs147187700
rs147187700 		0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0