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: rs758081262
rs758081262
ATM
0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.700 1.000 3 2012 2015
dbSNP: rs758081262
rs758081262
ATM
0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0