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: rs748922882
rs748922882
NEB ; RIF1
2 0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06 0.700 1.000 2 2002 2006