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rs121434538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434538(A;A)
Make rs121434538(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position51222349
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs121434538
dbSNP (classic)rs121434538
ClinGenrs121434538
ebirs121434538
HLIrs121434538
Exacrs121434538
Gnomadrs121434538
Varsomers121434538
LitVarrs121434538
Maprs121434538
PheGenIrs121434538
Biobankrs121434538
1000 genomesrs121434538
hgdprs121434538
ensemblrs121434538
geneviewrs121434538
scholarrs121434538
googlers121434538
pharmgkbrs121434538
gwascentralrs121434538
openSNPrs121434538
23andMers121434538
SNPshotrs121434538
SNPdbers121434538
MSV3drs121434538
GWAS Ctlgrs121434538
Max Magnitude0
OMIM107910
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434538(A;A)
Alt rs121434538(A;A)
Reference Rs121434538(G;G)
Significance Pathogenic
Disease Aromatase deficiency
Variation info
Gene CYP19A1
CLNDBN Aromatase deficiency
Reversed 1
HGVS NC_000015.9:g.51514546C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019404.28,