Source: CLINVAR

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: rs33930165
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 7 1982 2013
dbSNP: rs33930165
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C3889898
Disease: HEMOGLOBIN C PHENOTYPE
HEMOGLOBIN C PHENOTYPE 		0.700 0
dbSNP: rs33930165
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 0