GGCT, gamma-glutamylcyclotransferase, 79017

N. diseases: 108; N. variants: 3
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: rs1222838633
rs1222838633
1.000 0.080 7 30497816 missense variant T/C snv 1.6E-05
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009