HBS1L, HBS1 like translational GTPase, 10767

N. diseases: 49; N. variants: 124
Disease: alpha^+^ Thalassemia ×
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: rs66650371
rs66650371 		0.925 0.080 6 135097495 intron variant CTA/-;CTACTA delins 0.19
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016