ANO2, anoctamin 2, 57101

N. diseases: 20; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12579350
rs12579350
Entrez Id: 57101
Gene Symbol: ANO2
ANO2
CUI: C0030319
Disease:
Panic Disorder 		0.800 GeneticVariation GWASDB Genome-wide association study of panic disorder in the Japanese population. 19165232 2009
dbSNP: rs12579350
rs12579350
Entrez Id: 57101
Gene Symbol: ANO2
ANO2
CUI: C0030319
Disease:
Panic Disorder 		0.800 GeneticVariation GWASCAT Genome-wide association study of panic disorder in the Japanese population. 19165232 2009
dbSNP: rs61751305
rs61751305
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.710 GeneticVariation BEFREE The carboxy-terminal mutants C2739Y and C2754W showed strongly reduced to nearly absent secretion of VWF, consistent with type 3 VWD. 14995987 2004
dbSNP: rs61751305
rs61751305
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.710 GeneticVariation UNIPROT A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. 10887119 2000
dbSNP: rs61751305
rs61751305
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.710 GeneticVariation UNIPROT Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. 8088787 1994
dbSNP: rs61751305
rs61751305
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.710 GeneticVariation UNIPROT Genetic heterogeneity of severe von Willebrand disease type III in the German population. 7989040 1994
dbSNP: rs12579350
rs12579350
Entrez Id: 57101
Gene Symbol: ANO2
ANO2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs12579350
rs12579350
Entrez Id: 57101
Gene Symbol: ANO2
ANO2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs117585797
rs117585797
Entrez Id: 57101;105369621
Gene Symbol: ANO2;LOC105369621
ANO2;LOC105369621
CUI: C1443016
Disease:
Estradiol level result 		A 0.700 GeneticVariation GWASCAT Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. 26014426 2016
dbSNP: rs117585797
rs117585797
Entrez Id: 57101;105369621
Gene Symbol: ANO2;LOC105369621
ANO2;LOC105369621
CUI: C0441683
Disease:
Hormone measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. 26014426 2016
dbSNP: rs117585797
rs117585797
Entrez Id: 57101;105369621
Gene Symbol: ANO2;LOC105369621
ANO2;LOC105369621
CUI: C0337434
Disease:
Estradiol measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. 26014426 2016
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258 2012
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978 1996
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 7789955 1995
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152 1995
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. 7620154 1995
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Investigation of type IIC von Willebrand disease. 8011991 1994
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. 8123843 1994
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor. 8348943 1993
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. 8435341 1993
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method. 8338947 1993
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 8486782 1993
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. 1419804 1992
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. 1409710 1992
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.700 GeneticVariation UNIPROT Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. 1729889 1992