STX1B, syntaxin 1B, 112755

N. diseases: 58; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159974
rs724159974
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4015395
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.800 GeneticVariation UNIPROT Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 25362483 2014
dbSNP: rs12445568
rs12445568
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0033860
Disease:
Psoriasis 		0.800 GeneticVariation GWASDB Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
dbSNP: rs12445568
rs12445568
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0033860
Disease:
Psoriasis 		C 0.800 GeneticVariation GWASCAT Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
dbSNP: rs724159974
rs724159974
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4015395
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		T 0.800 CausalMutation CLINVAR
dbSNP: rs727502806
rs727502806
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4015395
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		0.800 GeneticVariation UNIPROT
dbSNP: rs727502806
rs727502806
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4015395
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		G 0.800 CausalMutation CLINVAR
dbSNP: rs12716979
rs12716979
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019
dbSNP: rs2199036
rs2199036
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4889606
rs4889606
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs55908605
rs55908605
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8062719
rs8062719
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2199036
rs2199036
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
dbSNP: rs12445568
rs12445568
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0263361
Disease:
Psoriasis vulgaris 		C 0.700 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
dbSNP: rs13708
rs13708
Entrez Id: 80270;112755
Gene Symbol: HSD3B7;STX1B
HSD3B7;STX1B
CUI: C0033860
Disease:
Psoriasis 		G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. 25903422 2015
dbSNP: rs4889606
rs4889606
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0562350
Disease:
Hip circumference 		A 0.700 GeneticVariation GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 25362483 2014
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 25362483 2014
dbSNP: rs13708
rs13708
Entrez Id: 80270;112755
Gene Symbol: HSD3B7;STX1B
HSD3B7;STX1B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs8060857
rs8060857
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs8062719
rs8062719
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Characterization of a presynaptic glutamate receptor. 8105537 1993
dbSNP: rs1555494259
rs1555494259
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Characterization of a presynaptic glutamate receptor. 8105537 1993
dbSNP: rs1114167275
rs1114167275
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
CUI: C4015395
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 		TCAATGCACATCC 0.700 CausalMutation CLINVAR