HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: Thalassemia Intermedia ×
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: rs1283391088
rs1283391088 		0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009