Gene: ATM ×
Source: ALL
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: rs1565400045
rs1565400045
ATM
1 11 108259050 frameshift variant A/- del 0.700 0
dbSNP: rs1565486028
rs1565486028
ATM
1 11 108307917 frameshift variant -/G delins 0.700 0
dbSNP: rs1800056
rs1800056
ATM
6 0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03 0.010 1.000 1 2003 2003
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2018 2018
dbSNP: rs750597831
rs750597831
ATM
2 1.000 0.120 11 108229230 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013