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: rs139750129
rs139750129
ADA2
1 1.000 0.080 22 17188449 splice acceptor variant T/C snv 1.2E-04 1.7E-04 0.700 1.000 3 2014 2017