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rs45487298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
Make rs45487298(-;G)
Make rs45487298(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209706873
GeneHSD11B1, LOC101930114
is asnp
is mentioned by
dbSNPrs45487298
dbSNP (classic)rs45487298
ClinGenrs45487298
ebirs45487298
HLIrs45487298
Exacrs45487298
Gnomadrs45487298
Varsomers45487298
LitVarrs45487298
Maprs45487298
PheGenIrs45487298
Biobankrs45487298
1000 genomesrs45487298
hgdprs45487298
ensemblrs45487298
geneviewrs45487298
scholarrs45487298
googlers45487298
pharmgkbrs45487298
gwascentralrs45487298
openSNPrs45487298
23andMers45487298
SNPshotrs45487298
SNPdbers45487298
MSV3drs45487298
GWAS Ctlgrs45487298
Max Magnitude0

[PMID 21117953] Optimization of High-Resolution Melting Analysis for Simultaneous Genotyping of Two 11?-Hydroxysteroid Dehydrogenase Type 1 Gene Polymorphisms

ClinVar
Risk Rs45487298(A;A) rs45487298(G;G)
Alt Rs45487298(A;A) rs45487298(G;G)
Reference Rs45487298(-;-)
Significance Unknown
Disease Cortisone reductase deficiency 2
Variation info
Gene LOC101930114 HSD11B1
CLNDBN Cortisone reductase deficiency 2
Reversed 0
HGVS NC_000001.10:g.209880218dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009466.2,


[PMID 26671915] Association between ins4436A in 11β-hydroxysteroid dehydrogenase type 1 gene and essential hypertension in Polish population.