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: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 GeneticVariation CLINVAR Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. 8844207 1996
dbSNP: rs121918649
rs121918649
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		0.700 GeneticVariation UNIPROT Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
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: 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: 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: 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: rs1271040
rs1271040
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1271040
rs1271040
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs1555370967
rs1555370967
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 CausalMutation CLINVAR Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. 9714702 1998
dbSNP: rs1555371769
rs1555371769
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1566754467
rs1566754467
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1741464
rs1741464
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016