KLF1, Kruppel like factor 1, 10661

N. diseases: 64; N. variants: 15
Disease: Congenital dyserythropoietic anemia type IV ×
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: C3150926
Disease: Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.850 1.000 7 2010 2020
dbSNP: rs387907598
rs387907598 		1.000 0.080 19 12885338 missense variant C/A;G snv
CUI: C3150926
Disease: Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387907599
rs387907599 		1.000 0.080 19 12884962 missense variant G/A;T snv 4.0E-06
CUI: C3150926
Disease: Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0