Source: CURATED

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: rs768362387
rs768362387
ATM
0.851 0.360 11 108253846 stop gained C/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 4 2000 2015
dbSNP: rs768362387
rs768362387
ATM
0.851 0.360 11 108253846 stop gained C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2013
dbSNP: rs768362387
rs768362387
ATM
0.851 0.360 11 108253846 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0