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: rs1458048713
rs1458048713
NEB ; RIF1
2 0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05 0.700 1.000 2 2014 2016