rs11739136
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs11739136(C;T) |
| Make rs11739136(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 170383792 |
| Gene | KCNIP1, KCNMB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11739136 |
| dbSNP (classic) | rs11739136 |
| ClinGen | rs11739136 |
| ebi | rs11739136 |
| HLI | rs11739136 |
| Exac | rs11739136 |
| Gnomad | rs11739136 |
| Varsome | rs11739136 |
| LitVar | rs11739136 |
| Map | rs11739136 |
| PheGenI | rs11739136 |
| Biobank | rs11739136 |
| 1000 genomes | rs11739136 |
| hgdp | rs11739136 |
| ensembl | rs11739136 |
| geneview | rs11739136 |
| scholar | rs11739136 |
| rs11739136 | |
| pharmgkb | rs11739136 |
| gwascentral | rs11739136 |
| openSNP | rs11739136 |
| 23andMe | rs11739136 |
| SNPshot | rs11739136 |
| SNPdbe | rs11739136 |
| MSV3d | rs11739136 |
| GWAS Ctlg | rs11739136 |
| GMAF | 0.09688 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11739136(T;T) |
| Alt | rs11739136(T;T) |
| Reference | Rs11739136(C;C) |
| Significance | Other |
| Disease | Hypertension |
| Variation | info |
| Gene | KCNMB1 KCNIP1 |
| CLNDBN | Hypertension, diastolic, resistance to |
| Reversed | 0 |
| HGVS | NC_000005.9:g.169810796C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006304.3, |
[PMID 18389087
] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
[PMID 18496125] Interactions among genetic variants from contractile pathway of vascular smooth muscle cell in essential hypertension susceptibility of Chinese Han population.
[PMID 18535015
] An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.
[PMID 18854753] The KCNMB1 Glu65Lys polymorphism associates with reduced systolic and diastolic blood pressure in the Inter99 study of 5729 Danes.
