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: rs863223303
rs863223303
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		TTC 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: rs1555371769
rs1555371769
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		T 0.700 GeneticVariation CLINVAR
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: 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
dbSNP: rs786204766
rs786204766
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121918645
rs121918645
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918646
rs121918646
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.800 CausalMutation CLINVAR
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: 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: 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: 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: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 GeneticVariation CLINVAR Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
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: rs121918650
rs121918650
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		G 0.700 CausalMutation 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: 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: rs3215645
rs3215645
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		CT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555366592
rs1555366592
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis 		CAA 0.700 GeneticVariation CLINVAR
dbSNP: rs121918647
rs121918647
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918647
rs121918647
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis 		C 0.700 CausalMutation CLINVAR