Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs33950507
rs33950507
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
Hemoglobin E/beta thalassemia disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0