HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs334
rs334
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.700 1.000 1 2019 2019