Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
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DT ID | DTD0532 Transporter Info | ||||
Gene Name | KCNT1 | ||||
Protein Name | Potassium channel subfamily T member 1 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs10776850 | ||||
Site of GPD | chr9:135785692 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A | ||||
Minor Allele Frequency | A=0.1809/906 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Antiepileptics | N.A. | Epilepsy | Irrelevant to the drug response in patients (compare with allele T) | [ 1] | |
Genetic Polymorphism | rs496503 | ||||
Site of GPD | chr9:135705128 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | G=0.1620/320 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs546120 | ||||
Site of GPD | chr9:135703102 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A / G>C / G>T | ||||
Minor Allele Frequency | G=0.4720/934 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs7855716 | ||||
Site of GPD | chr9:135725655 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>C / G>T | ||||
Minor Allele Frequency | G=0.7620/1507 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs1537416 | ||||
Site of GPD | chr9:135725457 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C | ||||
Minor Allele Frequency | T=0.5420/1072 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs10735239 | ||||
Site of GPD | chr9:135752357 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C | ||||
Minor Allele Frequency | T=0.4740/938 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs755722 | ||||
Site of GPD | chr9:135739808 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>T | ||||
Minor Allele Frequency | C=0.6150/1217 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs1165016 | ||||
Site of GPD | chr9:135714078 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G / C>T | ||||
Minor Allele Frequency | C=0.3720/736 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs487750 | ||||
Site of GPD | chr9:135711894 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>G / C>T | ||||
Minor Allele Frequency | C=0.4950/979 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs498618 | ||||
Site of GPD | chr9:135724120 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G / A>T | ||||
Minor Allele Frequency | A=0.3320/657 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs498974 | ||||
Site of GPD | chr9:135715705 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G / A>T | ||||
Minor Allele Frequency | A=0.5770/1141 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs10776845 | ||||
Site of GPD | chr9:135778130 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>A | ||||
Minor Allele Frequency | C=0.7390/1462 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele C. | [ 1] | |
Genetic Polymorphism | rs10858173 | ||||
Site of GPD | chr9:135789055 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A / T>C | ||||
Minor Allele Frequency | T=0.6750/1335 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs10118746 | ||||
Site of GPD | chr9:135761806 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G | ||||
Minor Allele Frequency | A=0.6650/1316 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs11103167 | ||||
Site of GPD | chr9:135756318 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C | ||||
Minor Allele Frequency | T=0.8640/1709 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
Genetic Polymorphism | rs1318383 | ||||
Site of GPD | chr9:135776227 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | A>G / A>T | ||||
Minor Allele Frequency | A=0.2460/486 (Global) | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G. | [ 1] | |
Genetic Polymorphism | rs11103182 | ||||
Site of GPD | chr9:135771950 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A / G>T | ||||
Minor Allele Frequency | G=0.3570/706 (Global) | ||||
Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Myotonic Disorders | Allele G is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T. | [ 1] | |
References | |||||
1 | Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. CNS Neurosci Ther. 2014 Feb;20(2):140-6. |
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