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: rs121908192
rs121908192
GFER ; NOXO1
3 0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05 0.800 1.000 2 2009 2010
dbSNP: rs1555486560
rs1555486560
GFER ; NOXO1
1 1.000 0.280 16 1984433 frameshift variant G/- delins 0.700 0