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: rs111645889
rs111645889 		1.000 0.080 11 5225653 missense variant G/A;T snv 2.0E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1141387
rs1141387 		1.000 11 5226789 missense variant C/A;G snv
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1141387
rs1141387 		1.000 11 5226789 missense variant C/A;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
METHEMOGLOBINEMIA, BETA TYPE 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs1554917888
rs1554917888 		1.000 0.080 11 5226675 frameshift variant -/A delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554917947
rs1554917947 		1.000 0.080 11 5226745 frameshift variant C/- del
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554918032
rs1554918032 		1.000 0.080 11 5226800 splice acceptor variant CTAAGGGTGGGAAAATA/- del
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1564875331
rs1564875331 		0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1564875331
rs1564875331 		0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1564875331
rs1564875331 		0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1564875331
rs1564875331 		0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564875707
rs1564875707 		1.000 0.080 11 5226905 splice donor variant CCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG/- del
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs193922552
rs193922552 		1.000 0.080 11 5227002 missense variant TC/AT mnv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs193922553
rs193922553 		1.000 0.080 11 5226691 frameshift variant T/- delins
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		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: rs193922563
rs193922563 		0.925 0.080 11 5226797 splice acceptor variant GCCTAAGGGTGGGAAAATAGACCAA/-;GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267607291
rs267607291 		1.000 0.080 11 5226774 frameshift variant GG/-;G delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0