Gene: EGLN1 ×
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: rs533281866
rs533281866
EGLN1
3 1 231422308 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs576195416
rs576195416
EGLN1
1 1 231374522 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016