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: rs33941849
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 21 1990 2017
dbSNP: rs33941849
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 0
dbSNP: rs33941849
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv
CUI: C4017528
Disease: BETA-THALASSEMIA, LERMONTOV TYPE
BETA-THALASSEMIA, LERMONTOV TYPE 		0.700 0
dbSNP: rs33941849
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		0.700 0