Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 10406914 1999
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 10406914 1999
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. 8547605 1995
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis. 8547071 1995
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis. 8547071 1995
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. 8547605 1995
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). 7819064 1994
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). 7819064 1994
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 1992
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.800 GeneticVariation UNIPROT An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 1992
dbSNP: rs121917734
rs121917734
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs143682977
rs143682977
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 10406914 1999
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis. 8547071 1995
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. 8547605 1995
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). 7819064 1994
dbSNP: rs104894487
rs104894487
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		0.700 GeneticVariation UNIPROT An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 1992
dbSNP: rs115998465
rs115998465
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs266257354
rs266257354
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs266257355
rs266257355
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs515726211
rs515726211
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs515726212
rs515726212
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
CUI: C2675192
Disease:
Spherocytosis, Type 5 		A 0.700 CausalMutation CLINVAR