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: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 1.000 4 2011 2016
dbSNP: rs2071348
rs2071348
1 1.000 0.080 11 5242916 intron variant T/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs766432
rs766432
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs9376092
rs9376092
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.700 1.000 1 2010 2010