rs267607201, KLF1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital dyserythropoietic anemia type IV
CUI: C3150926
Disease: Congenital dyserythropoietic anemia type IV
6 0.807 0.120 19 12885001 missense variant C/T snv 0.850 1.000 7 2010 2020
In(Lu) phenotype (finding)
CUI: C1292231
Disease: In(Lu) phenotype (finding)
10 0.807 0.120 19 12885001 missense variant C/T snv 0.700 0
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
13 0.807 0.120 19 12885001 missense variant C/T snv 0.060 1.000 6 2013 2020
Anemia
CUI: C0002871
Disease: Anemia
94 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2018 2018
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2015 2015
Anemia, severe
CUI: C0238644
Disease: Anemia, severe
6 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2018 2018
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2019 2019