rs35256489, HBB

N. diseases: 5
Source: CURATED ×
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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
87 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 1.000 8 1987 2009
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
75 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
BETA-SHOWA-YAKUSHIJI THALASSEMIA
CUI: C4017522
Disease: BETA-SHOWA-YAKUSHIJI THALASSEMIA
1 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
28 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
7 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0