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rs5515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5515(A;A)
Make rs5515(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position50820420
GeneKLK1
is asnp
is mentioned by
dbSNPrs5515
ebirs5515
HLIrs5515
Exacrs5515
Varsomers5515
Maprs5515
PheGenIrs5515
hapmaprs5515
1000 genomesrs5515
hgdprs5515
ensemblrs5515
gopubmedrs5515
geneviewrs5515
scholarrs5515
googlers5515
pharmgkbrs5515
gwascentralrs5515
openSNPrs5515
23andMers5515
23andMe allrs5515
SNP Nexus

SNPshotrs5515
SNPdbers5515
MSV3drs5515
GWAS Ctlgrs5515
GMAF0.04224
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM147910
Desc
Variant0001
Relatedalso


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
CLNACC RCV000015766.27,



[PMID 19164804OA-icon.png] Critical role of tissue kallikrein in vessel formation and maturation: implications for therapeutic revascularization.


GET Evidence
KLK1-R77H
aa_change Arg77His
aa_change_short R77H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0569809
summary