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: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 18 1996 2017
dbSNP: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1996 2017
dbSNP: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0