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: rs121434407
rs121434407
GLE1 ; LOC101929270
5 0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 0.810 1.000 2 2008 2018
dbSNP: rs386833693
rs386833693
GLE1
2 0.925 0.120 9 128522658 intron variant A/G;T snv 1.5E-05; 9.7E-04 0.700 0