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rs4149601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4149601(A;A)
Make rs4149601(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position58149559
GeneNEDD4L
is asnp
is mentioned by
dbSNPrs4149601
ebirs4149601
HLIrs4149601
Exacrs4149601
Varsomers4149601
Maprs4149601
PheGenIrs4149601
hapmaprs4149601
1000 genomesrs4149601
hgdprs4149601
ensemblrs4149601
gopubmedrs4149601
geneviewrs4149601
scholarrs4149601
googlers4149601
pharmgkbrs4149601
gwascentralrs4149601
openSNPrs4149601
23andMers4149601
23andMe allrs4149601
SNP Nexus

SNPshotrs4149601
SNPdbers4149601
MSV3drs4149601
GWAS Ctlgrs4149601
GMAF0.2925
Max Magnitude0
? (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 17487281OA-icon.png] 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 19156173OA-icon.png] 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 20003179OA-icon.png] 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 23353631OA-icon.png] Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics


[PMID 23549273OA-icon.png] 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 PharmGKB
CLNACC RCV000211181.1, RCV000211396.1,