rs33941849, HBB

N. diseases: 4
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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 1.000 21 1990 2017
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
BETA-THALASSEMIA, LERMONTOV TYPE
CUI: C4017528
Disease: BETA-THALASSEMIA, LERMONTOV TYPE
1 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
49 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0