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: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs756522395
rs756522395
ATM
1 1.000 0.080 11 108257484 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008