Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800057
rs1800057
ATM
8 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.730 0.750 3 2004 2018