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: 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: 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: rs863223302
rs863223302
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863223303
rs863223303
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		TTC 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0015672
Disease:
Fatigue 		G 0.700 CausalMutation CLINVAR
dbSNP: rs147598882
rs147598882
Entrez Id: 6710;105370534
Gene Symbol: SPTB;LOC105370534
SPTB;LOC105370534
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121918647
rs121918647
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis 		C 0.700 CausalMutation 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: C0037889
Disease:
Hereditary spherocytosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1566754467
rs1566754467
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0022346
Disease:
Icterus 		G 0.700 CausalMutation CLINVAR
dbSNP: rs11158559
rs11158559
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1295176
Disease:
Leptin measurement 		A 0.700 GeneticVariation GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
dbSNP: rs229614
rs229614
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE Individuals carrying the XPG rs229614 TT (OR=2.01, 95%CI=1.35-3.27) genotype and T allele (OR=1.73, 95%CI=1.37-2.57) were moderately significantly associated with a higher risk of prostate cancer. 24289586 2013
dbSNP: rs1555366607
rs1555366607
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0030232
Disease:
Pallor 		G 0.700 CausalMutation CLINVAR
dbSNP: rs11158559
rs11158559
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0162701
Disease:
Polysomnography 		A 0.700 GeneticVariation GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
dbSNP: rs229614
rs229614
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0600139
Disease:
Prostate carcinoma 		0.010 GeneticVariation BEFREE Individuals carrying the XPG rs229614 TT (OR=2.01, 95%CI=1.35-3.27) genotype and T allele (OR=1.73, 95%CI=1.37-2.57) were moderately significantly associated with a higher risk of prostate cancer. 24289586 2013
dbSNP: rs11851199
rs11851199
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11851199
rs11851199
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: rs17767662
rs17767662
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		T 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs2285002
rs2285002
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11851199
rs11851199
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11851199
rs11851199
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: rs17767662
rs17767662
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0427460
Disease:
Red cell distribution width determination 		T 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017