rs3741559
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3741559(A;A) |
Make rs3741559(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49951193 |
Gene | AQP2, LOC101927318 |
is a | snp |
is | mentioned by |
dbSNP | rs3741559 |
dbSNP (classic) | rs3741559 |
ClinGen | rs3741559 |
ebi | rs3741559 |
HLI | rs3741559 |
Exac | rs3741559 |
Gnomad | rs3741559 |
Varsome | rs3741559 |
LitVar | rs3741559 |
Map | rs3741559 |
PheGenI | rs3741559 |
Biobank | rs3741559 |
1000 genomes | rs3741559 |
hgdp | rs3741559 |
ensembl | rs3741559 |
geneview | rs3741559 |
scholar | rs3741559 |
rs3741559 | |
pharmgkb | rs3741559 |
gwascentral | rs3741559 |
openSNP | rs3741559 |
23andMe | rs3741559 |
SNPshot | rs3741559 |
SNPdbe | rs3741559 |
MSV3d | rs3741559 |
GWAS Ctlg | rs3741559 |
GMAF | 0.2016 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 21793635] Influence of aquaporin-1 gene polymorphism on water retention in liver cirrhosis
[PMID 20360993] Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
ClinVar | |
---|---|
Risk | rs3741559(A;A) |
Alt | rs3741559(A;A) |
Reference | Rs3741559(G;G) |
Significance | Non-pathogenic |
Disease | not specified Nephrogenic diabetes insipidus |
Variation | info |
Gene | AQP2 LOC101927318 |
CLNDBN | not specified Nephrogenic diabetes insipidus |
Reversed | 0 |
HGVS | NC_000012.11:g.50344976G>A |
CLNSRC | |
CLNACC | RCV000250941.1, RCV000377110.1, |
[PMID 29474507] PNPLA3 Association with Alcoholic Liver Disease in a Cohort of Heavy Drinkers.