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: rs10517025
rs10517025
4 42451236 intron variant C/T snv 0.15
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.800 1.000 1 2012 2012
dbSNP: rs3749530
rs3749530
4 42591223 intron variant A/C snv 0.20
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
0.700 1.000 1 2011 2011
dbSNP: rs1260625356
rs1260625356
1.000 0.080 4 42579840 missense variant C/T snv
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019