SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918649
rs121918649
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. 8018926 1994
dbSNP: rs367841692
rs367841692
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. 8018926 1994
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
dbSNP: rs121918649
rs121918649
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
dbSNP: rs367841692
rs367841692
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. 1975598 1990
dbSNP: rs121918649
rs121918649
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. 1975598 1990
dbSNP: rs367841692
rs367841692
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. 1975598 1990
dbSNP: rs121918647
rs121918647
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs121918649
rs121918649
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C4016380
Disease:
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
C 0.700 CausalMutation CLINVAR
dbSNP: rs121918650
rs121918650
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs121918651
rs121918651
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs1225539653
rs1225539653
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3
0.700 GeneticVariation UNIPROT
dbSNP: rs150471537
rs150471537
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555366592
rs1555366592
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis
CAA 0.700 GeneticVariation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0022346
Disease:
Icterus
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0015672
Disease:
Fatigue
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0030232
Disease:
Pallor
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0038002
Disease:
Splenomegaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555367318
rs1555367318
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0002878
Disease:
Anemia, Hemolytic
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555367359
rs1555367359
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555367789
rs1555367789
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555369657
rs1555369657
Entrez Id: 6710;102465841
Gene Symbol: SPTB;MIR7855
SPTB;MIR7855
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555371769
rs1555371769
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2
T 0.700 GeneticVariation CLINVAR