Source: BEFREE

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: rs33935445
rs33935445
HBB
0.925 0.080 11 5226978 missense variant A/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 1.000 1 1976 1976