KLF1, Kruppel like factor 1, 10661

N. diseases: 64; N. variants: 15
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: rs267607201
rs267607201
0.807 0.120 19 12885001 missense variant C/T snv
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019