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: rs80358193
rs80358193
EGLN1
3 0.882 0.080 1 231374041 missense variant G/C snv 0.800 1.000 3 2006 2012
dbSNP: rs119476044
rs119476044
EGLN1
1 1.000 0.040 1 231370598 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs119476045
rs119476045
EGLN1
1 1.000 0.040 1 231370589 missense variant T/C snv 0.700 0