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: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.850 1.000 3 1957 2018
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 9 1984 2012
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1975 2013
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		0.700 0
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.700 0