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: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.810 1.000 10 1980 2017
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.710 1.000 0 2015 2015
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.700 1.000 7 1990 2011
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.700 1.000 4 2011 2016
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 0
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0002871
Disease: Anemia
Anemia 		0.700 0
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		0.700 0