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.