rs4149601
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs4149601(A;A) |
| Make rs4149601(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 58149559 |
| Gene | NEDD4L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4149601 |
| dbSNP (classic) | rs4149601 |
| ClinGen | rs4149601 |
| ebi | rs4149601 |
| HLI | rs4149601 |
| Exac | rs4149601 |
| Gnomad | rs4149601 |
| Varsome | rs4149601 |
| LitVar | rs4149601 |
| Map | rs4149601 |
| PheGenI | rs4149601 |
| Biobank | rs4149601 |
| 1000 genomes | rs4149601 |
| hgdp | rs4149601 |
| ensembl | rs4149601 |
| geneview | rs4149601 |
| scholar | rs4149601 |
| rs4149601 | |
| pharmgkb | rs4149601 |
| gwascentral | rs4149601 |
| openSNP | rs4149601 |
| 23andMe | rs4149601 |
| SNPshot | rs4149601 |
| SNPdbe | rs4149601 |
| MSV3d | rs4149601 |
| GWAS Ctlg | rs4149601 |
| GMAF | 0.2925 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs4149601 has been associated with hypertension. This SNP by itself was associated with diastolic blood pressure (DBP) (p=0.03) and DBP progression over time (p=0.04); in genotypic combination with intronic NEDD4L SNP rs2288774 it was associated with systolic blood pressure (SBP) (p=0.01), DBP (p=0.04), and progression of both SBP (p=0.03) and DBP (p=0.05) over time.[PMID 16788695]
[PMID 21052022] A functional variant of the NEDD4L gene is associated with beneficial treatment response with ?-blockers and diuretics in hypertensive patients
[PMID 17487281
] Polymorphism in NEDD4L is associated with increased salt sensitivity, reduced levels of P-renin and increased levels of Nt-proANP.
[PMID 18268134] Expression, transcription, and possible antagonistic interaction of the human Nedd4L gene variant: implications for essential hypertension.
[PMID 18293164] Two polymorphisms in NEDD4L gene and essential hypertension in Chinese Hans - a population-based case-control study.
[PMID 18591455] Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation.
[PMID 19156173] Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population.
[PMID 19635985] A functional variant of NEDD4L is associated with hypertension, antihypertensive response, and orthostatic hypotension.
[PMID 20003179] Genetic variation of NEDD4L is associated with essential hypertension in female Kazakh general population: a case-control study.
[PMID 20038744] Human Nedd4L rs4149601 G allele generates evolutionary new isoform I with C2 domain.
[PMID 21154329] [Association of the rs4149601 polymorphism of NEDD4L gene with obesity in Xinjiang Kazakh population].
[PMID 23353631] Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics
[PMID 23549273] A Functional Variant of NEDD4L Is Associated with Obesity and Related Phenotypes in a Han Population of Southern China.
| ClinVar | |
|---|---|
| Risk | rs4149601(A;A) |
| Alt | rs4149601(A;A) |
| Reference | Rs4149601(G;G) |
| Significance | Drug-response |
| Disease | hydrochlorothiazide response - Efficacy diuretics response - Efficacy |
| Variation | info |
| Gene | NEDD4L |
| CLNDBN | hydrochlorothiazide response - Efficacy diuretics response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.55816791G>A |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211181.1, RCV000211396.1, |
