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rs121434534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434534(C;T)
Make rs121434534(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position51211017
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs121434534
dbSNP (classic)rs121434534
ClinGenrs121434534
ebirs121434534
HLIrs121434534
Exacrs121434534
Gnomadrs121434534
Varsomers121434534
LitVarrs121434534
Maprs121434534
PheGenIrs121434534
Biobankrs121434534
1000 genomesrs121434534
hgdprs121434534
ensemblrs121434534
geneviewrs121434534
scholarrs121434534
googlers121434534
pharmgkbrs121434534
gwascentralrs121434534
openSNPrs121434534
23andMers121434534
SNPshotrs121434534
SNPdbers121434534
MSV3drs121434534
GWAS Ctlgrs121434534
Max Magnitude0
OMIM107910
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434534(T;T)
Alt rs121434534(T;T)
Reference Rs121434534(C;C)
Significance Pathogenic
Disease Aromatase deficiency
Variation info
Gene CYP19A1
CLNDBN Aromatase deficiency
Reversed 1
HGVS NC_000015.9:g.51503214G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019393.29,