Source: ALL

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: rs1131691164
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2015
dbSNP: rs1131691164
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691164
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0