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: rs869312754
rs869312754
ATM
3 0.925 0.120 11 108227594 splice acceptor variant G/T snv 0.700 0
dbSNP: rs80359164
rs80359164
BRCA2
2 1.000 0.080 13 32379897 missense variant A/G snv 1.2E-05 0.010 1.000 1 2003 2003