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: rs33931746
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 13 1982 2014
dbSNP: rs33931746
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 0
dbSNP: rs33931746
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.700 0