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: rs1201810520
rs1201810520
EIF2AK3
2 0.925 0.160 2 88590497 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2012 2012