rs387907598, KLF1

N. diseases: 3
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 1.000 0.080 19 12885338 missense variant C/A;G snv 0.700 0
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
CUI: C3150805
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
3 1.000 0.080 19 12885338 missense variant C/A;G snv 0.700 0
In(Lu) phenotype (finding)
CUI: C1292231
Disease: In(Lu) phenotype (finding)
10 1.000 0.080 19 12885338 missense variant C/A;G snv 0.700 0