rs5515
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs5515(A;A) |
Make rs5515(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 50820420 |
Gene | KLK1 |
is a | snp |
is | mentioned by |
dbSNP | rs5515 |
dbSNP (classic) | rs5515 |
ClinGen | rs5515 |
ebi | rs5515 |
HLI | rs5515 |
Exac | rs5515 |
Gnomad | rs5515 |
Varsome | rs5515 |
LitVar | rs5515 |
Map | rs5515 |
PheGenI | rs5515 |
Biobank | rs5515 |
1000 genomes | rs5515 |
hgdp | rs5515 |
ensembl | rs5515 |
geneview | rs5515 |
scholar | rs5515 |
rs5515 | |
pharmgkb | rs5515 |
gwascentral | rs5515 |
openSNP | rs5515 |
23andMe | rs5515 |
SNPshot | rs5515 |
SNPdbe | rs5515 |
MSV3d | rs5515 |
GWAS Ctlg | rs5515 |
GMAF | 0.04224 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs5515(A;A) |
Alt | rs5515(A;A) |
Reference | Rs5515(G;G) |
Significance | Other |
Disease | Kallikrein |
Variation | info |
Gene | KLK1 |
CLNDBN | Kallikrein, decreased urinary activity of |
Reversed | 1 |
HGVS | NC_000019.9:g.51323676C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015766.27, |
[PMID 19164804] Critical role of tissue kallikrein in vessel formation and maturation: implications for therapeutic revascularization.