Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
0.010 1.000 1 2009 2009
dbSNP: rs3025030
rs3025030
0.882 0.200 6 43782850 non coding transcript exon variant G/C snv 0.13
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
0.010 1.000 1 2012 2012
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
0.010 1.000 1 2012 2012