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: 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: 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
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
dbSNP: rs1566754467
rs1566754467
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0037889
Disease:
Hereditary spherocytosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267607086
rs267607086
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786204766
rs786204766
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		T 0.700 GeneticVariation CLINVAR
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