HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Cooley's anemia ×
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: rs33915217
rs33915217 		0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35004220
rs35004220 		0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35256489
rs35256489 		0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34451549
rs34451549 		0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33960103
rs33960103 		0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs193922555
rs193922555 		0.925 0.080 11 5226641 frameshift variant C/- delins
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34282684
rs34282684 		0.925 0.080 11 5226688 frameshift variant AC/- delins
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0