Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs33913413
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 7 1988 2015
dbSNP: rs33913413
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.700 0
dbSNP: rs33913413
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		0.700 0
dbSNP: rs33913413
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.700 0