STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918318
rs121918318
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918319
rs121918319
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777310
rs587777310
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518985
rs1057518985
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519501
rs1057519501
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519537
rs1057519537
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519538
rs1057519538
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519539
rs1057519539
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057522982
rs1057522982
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501722
rs1060501722
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060501723
rs1060501723
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060501724
rs1060501724
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1316686443
rs1316686443
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554775960
rs1554775960
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554776674
rs1554776674
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554776831
rs1554776831
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs1554776853
rs1554776853
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554776853
rs1554776853
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554776948
rs1554776948
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554776954
rs1554776954
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0233514
Disease:
Abnormal behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554776954
rs1554776954
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554776954
rs1554776954
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2243051
Disease:
Large head (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554776954
rs1554776954
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0239842
Disease:
Tremor of hands 		T 0.700 CausalMutation CLINVAR