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: rs775248597
rs775248597
ATM
5 0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 0.700 0
dbSNP: rs878854600
rs878854600
SMARCB1 ; DERL3
4 0.851 0.240 22 23834262 3 prime UTR variant C/T snv 0.700 0