Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434536(C;T)
Make rs121434536(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position51212460
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs121434536
dbSNP (classic)rs121434536
ClinGenrs121434536
ebirs121434536
HLIrs121434536
Exacrs121434536
Gnomadrs121434536
Varsomers121434536
LitVarrs121434536
Maprs121434536
PheGenIrs121434536
Biobankrs121434536
1000 genomesrs121434536
hgdprs121434536
ensemblrs121434536
geneviewrs121434536
scholarrs121434536
googlers121434536
pharmgkbrs121434536
gwascentralrs121434536
openSNPrs121434536
23andMers121434536
SNPshotrs121434536
SNPdbers121434536
MSV3drs121434536
GWAS Ctlgrs121434536
Max Magnitude0
OMIM107910
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434536(T;T)
Alt rs121434536(T;T)
Reference Rs121434536(C;C)
Significance Pathogenic
Disease Aromatase deficiency
Variation info
Gene CYP19A1
CLNDBN Aromatase deficiency
Reversed 1
HGVS NC_000015.9:g.51504657G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019396.29,