rs1182452266, GYG1

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.
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
13 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019
Congenital dyserythropoietic anemia type IV
CUI: C3150926
Disease: Congenital dyserythropoietic anemia type IV
6 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019