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: rs764152905
rs764152905
SMG1
1 1.000 0.120 16 18854890 missense variant T/A;C snv 8.0E-06; 2.4E-05 0.010 1.000 1 2019 2019