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: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.810 1.000 4 2009 2018
dbSNP: rs281864519
rs281864519
HBB
1 1.000 0.040 11 5227003 frameshift variant CA/- del 0.700 1.000 2 2009 2012
dbSNP: rs33930165
rs33930165
HBB
5 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.010 1.000 1 2011 2011