HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Anemia ×
Source: ALL
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
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2013
dbSNP: rs33950542
rs33950542 		1.000 0.040 11 5226665 missense variant A/C;G snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012